SNP Links for Protein (Select 14916494) - SNP

Select item 14830039681.

rs1483003968 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:25501301 (GRCh38)
3:25542792 (GRCh37)
Canonical SPDI:: NC_000003.12:25501300:T:G
Gene:: RARB (Varview), LOC124909356 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.25501301T>G, NC_000003.11:g.25542792T>G, NG_029013.3:g.676979T>G, NM_000965.5:c.426T>G, NM_000965.4:c.426T>G, NM_000965.3:c.426T>G, NM_016152.4:c.90T>G, NM_016152.3:c.90T>G, NM_001290216.3:c.447T>G, NM_001290216.2:c.447T>G, NM_001290216.1:c.447T>G, NM_001290276.2:c.90T>G, NM_001290276.1:c.90T>G, NR_110892.2:n.895T>G, NR_110892.1:n.895T>G, NR_110893.2:n.895T>G, NR_110893.1:n.895T>G, NM_001290266.2:c.279T>G, NM_001290266.1:c.279T>G, NM_001290300.2:c.297T>G, NM_001290300.1:c.297T>G, NM_001290217.2:c.90T>G, NM_001290217.1:c.90T>G, NM_001290277.1:c.426T>G, XR_007095847.1:n.886A>C, NP_000956.2:p.Phe142Leu, NP_057236.1:p.Phe30Leu, NP_001277145.1:p.Phe149Leu, NP_001277205.1:p.Phe30Leu, NP_001277195.1:p.Phe93Leu, NP_001277229.1:p.Phe99Leu, NP_001277146.1:p.Phe30Leu, NP_001277206.1:p.Phe142Leu

Select item 14814359652.

rs1481435965 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:25569762 (GRCh38)
3:25611253 (GRCh37)
Canonical SPDI:: NC_000003.12:25569761:C:T
Gene:: RARB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.25569762C>T, NC_000003.11:g.25611253C>T, NG_029013.3:g.745440C>T, NM_000965.5:c.453C>T, NM_000965.4:c.453C>T, NM_000965.3:c.453C>T, NM_016152.4:c.117C>T, NM_016152.3:c.117C>T, NM_001290216.3:c.474C>T, NM_001290216.2:c.474C>T, NM_001290216.1:c.474C>T, NM_001290276.2:c.117C>T, NM_001290276.1:c.117C>T, NR_110893.2:n.922C>T, NR_110893.1:n.922C>T, NM_001290266.2:c.306C>T, NM_001290266.1:c.306C>T, NM_001290300.2:c.324C>T, NM_001290300.1:c.324C>T, NM_001290217.2:c.117C>T, NM_001290217.1:c.117C>T, NM_001290277.1:c.453C>T

Select item 14805800243.

rs1480580024 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:25428882 (GRCh38)
3:25470373 (GRCh37)
Canonical SPDI:: NC_000003.12:25428881:G:A,NC_000003.12:25428881:G:T
Gene:: RARB (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.25428882G>A, NC_000003.12:g.25428882G>T, NC_000003.11:g.25470373G>A, NC_000003.11:g.25470373G>T, NG_029013.3:g.604560G>A, NG_029013.3:g.604560G>T, NM_000965.5:c.151G>A, NM_000965.5:c.151G>T, NM_000965.4:c.151G>A, NM_000965.4:c.151G>T, NM_000965.3:c.151G>A, NM_000965.3:c.151G>T, NM_001290276.2:c.-186G>A, NM_001290276.2:c.-186G>T, NM_001290276.1:c.-186G>A, NM_001290276.1:c.-186G>T, NR_110892.2:n.620G>A, NR_110892.2:n.620G>T, NR_110892.1:n.620G>A, NR_110892.1:n.620G>T, NR_110893.2:n.620G>A, NR_110893.2:n.620G>T, NR_110893.1:n.620G>A, NR_110893.1:n.620G>T, NM_001290277.1:c.151G>A, NM_001290277.1:c.151G>T, NP_000956.2:p.Ala51Thr, NP_000956.2:p.Ala51Ser, NP_001277206.1:p.Ala51Thr, NP_001277206.1:p.Ala51Ser

Select item 14771363714.

rs1477136371 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:25461287 (GRCh38)
3:25502778 (GRCh37)
Canonical SPDI:: NC_000003.12:25461286:C:T
Gene:: RARB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.25461287C>T, NC_000003.11:g.25502778C>T, NG_029013.3:g.636965C>T, NM_000965.5:c.252C>T, NM_000965.4:c.252C>T, NM_000965.3:c.252C>T, NM_016152.4:c.-85C>T, NM_016152.3:c.-85C>T, NM_001290216.3:c.273C>T, NM_001290216.2:c.273C>T, NM_001290216.1:c.273C>T, NM_001290276.2:c.-85C>T, NM_001290276.1:c.-85C>T, NR_110892.2:n.721C>T, NR_110892.1:n.721C>T, NR_110893.2:n.721C>T, NR_110893.1:n.721C>T, NM_001290266.2:c.105C>T, NM_001290266.1:c.105C>T, NM_001290300.2:c.123C>T, NM_001290300.1:c.123C>T, NM_001290217.2:c.-85C>T, NM_001290217.1:c.-85C>T, NM_001290277.1:c.252C>T

Select item 14760404495.

rs1476040449 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:25596464 (GRCh38)
3:25637955 (GRCh37)
Canonical SPDI:: NC_000003.12:25596463:A:T
Gene:: RARB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.25596464A>T, NC_000003.11:g.25637955A>T, NG_029013.3:g.772142A>T, NM_000965.5:c.1195A>T, NM_000965.4:c.1195A>T, NM_000965.3:c.1195A>T, NM_016152.4:c.859A>T, NM_016152.3:c.859A>T, NM_001290216.3:c.1216A>T, NM_001290216.2:c.1216A>T, NM_001290216.1:c.1216A>T, NM_001290276.2:c.859A>T, NM_001290276.1:c.859A>T, NR_110892.2:n.1503A>T, NR_110892.1:n.1503A>T, NR_110893.2:n.1459A>T, NR_110893.1:n.1459A>T, NM_001290266.2:c.1048A>T, NM_001290266.1:c.1048A>T, NM_001290300.2:c.1066A>T, NM_001290300.1:c.1066A>T, NM_001290217.2:c.859A>T, NM_001290217.1:c.859A>T, NM_001290277.1:c.1057A>T, NG_052961.1:g.72909T>A, NP_000956.2:p.Met399Leu, NP_057236.1:p.Met287Leu, NP_001277145.1:p.Met406Leu, NP_001277205.1:p.Met287Leu, NP_001277195.1:p.Met350Leu, NP_001277229.1:p.Met356Leu, NP_001277146.1:p.Met287Leu, NP_001277206.1:p.Met353Leu

Select item 14754051536.

rs1475405153 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 3:25501315 (GRCh38)
3:25542806 (GRCh37)
Canonical SPDI:: NC_000003.12:25501314:C:A,NC_000003.12:25501314:C:G
Gene:: RARB (Varview), LOC124909356 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.25501315C>A, NC_000003.12:g.25501315C>G, NC_000003.11:g.25542806C>A, NC_000003.11:g.25542806C>G, NG_029013.3:g.676993C>A, NG_029013.3:g.676993C>G, NM_000965.5:c.440C>A, NM_000965.5:c.440C>G, NM_000965.4:c.440C>A, NM_000965.4:c.440C>G, NM_000965.3:c.440C>A, NM_000965.3:c.440C>G, NM_016152.4:c.104C>A, NM_016152.4:c.104C>G, NM_016152.3:c.104C>A, NM_016152.3:c.104C>G, NM_001290216.3:c.461C>A, NM_001290216.3:c.461C>G, NM_001290216.2:c.461C>A, NM_001290216.2:c.461C>G, NM_001290216.1:c.461C>A, NM_001290216.1:c.461C>G, NM_001290276.2:c.104C>A, NM_001290276.2:c.104C>G, NM_001290276.1:c.104C>A, NM_001290276.1:c.104C>G, NR_110892.2:n.909C>A, NR_110892.2:n.909C>G, NR_110892.1:n.909C>A, NR_110892.1:n.909C>G, NR_110893.2:n.909C>A, NR_110893.2:n.909C>G, NR_110893.1:n.909C>A, NR_110893.1:n.909C>G, NM_001290266.2:c.293C>A, NM_001290266.2:c.293C>G, NM_001290266.1:c.293C>A, NM_001290266.1:c.293C>G, NM_001290300.2:c.311C>A, NM_001290300.2:c.311C>G, NM_001290300.1:c.311C>A, NM_001290300.1:c.311C>G, NM_001290217.2:c.104C>A, NM_001290217.2:c.104C>G, NM_001290217.1:c.104C>A, NM_001290217.1:c.104C>G, NM_001290277.1:c.440C>A, NM_001290277.1:c.440C>G, XR_007095847.1:n.872G>T, XR_007095847.1:n.872G>C, NP_000956.2:p.Ser147Tyr, NP_000956.2:p.Ser147Cys, NP_057236.1:p.Ser35Tyr, NP_057236.1:p.Ser35Cys, NP_001277145.1:p.Ser154Tyr, NP_001277145.1:p.Ser154Cys, NP_001277205.1:p.Ser35Tyr, NP_001277205.1:p.Ser35Cys, NP_001277195.1:p.Ser98Tyr, NP_001277195.1:p.Ser98Cys, NP_001277229.1:p.Ser104Tyr, NP_001277229.1:p.Ser104Cys, NP_001277146.1:p.Ser35Tyr, NP_001277146.1:p.Ser35Cys, NP_001277206.1:p.Ser147Tyr, NP_001277206.1:p.Ser147Cys

Select item 14747407577.

rs1474740757 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:25569874 (GRCh38)
3:25611365 (GRCh37)
Canonical SPDI:: NC_000003.12:25569873:C:G
Gene:: RARB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.25569874C>G, NC_000003.11:g.25611365C>G, NG_029013.3:g.745552C>G, NM_000965.5:c.565C>G, NM_000965.4:c.565C>G, NM_000965.3:c.565C>G, NM_016152.4:c.229C>G, NM_016152.3:c.229C>G, NM_001290216.3:c.586C>G, NM_001290216.2:c.586C>G, NM_001290216.1:c.586C>G, NM_001290276.2:c.229C>G, NM_001290276.1:c.229C>G, NR_110893.2:n.1034C>G, NR_110893.1:n.1034C>G, NM_001290266.2:c.418C>G, NM_001290266.1:c.418C>G, NM_001290300.2:c.436C>G, NM_001290300.1:c.436C>G, NM_001290217.2:c.229C>G, NM_001290217.1:c.229C>G, NM_001290277.1:c.565C>G, NP_000956.2:p.Gln189Glu, NP_057236.1:p.Gln77Glu, NP_001277145.1:p.Gln196Glu, NP_001277205.1:p.Gln77Glu, NP_001277195.1:p.Gln140Glu, NP_001277229.1:p.Gln146Glu, NP_001277146.1:p.Gln77Glu, NP_001277206.1:p.Gln189Glu

Select item 14733497898.

rs1473349789 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCAAGT>- [Show Flanks]
Chromosome:: 3:25596527 (GRCh38)
3:25638018 (GRCh37)
Canonical SPDI:: NC_000003.12:25596521:CAAGTTCAAGT:CAAGT
Gene:: RARB (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: CAAGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.25596527_25596532del, NC_000003.11:g.25638018_25638023del, NG_029013.3:g.772205_772210del, NM_000965.5:c.1258_1263del, NM_000965.4:c.1258_1263del, NM_000965.3:c.1258_1263del, NM_016152.4:c.922_927del, NM_016152.3:c.922_927del, NM_001290216.3:c.1279_1284del, NM_001290216.2:c.1279_1284del, NM_001290216.1:c.1279_1284del, NM_001290276.2:c.922_927del, NM_001290276.1:c.922_927del, NR_110892.2:n.1566_1571del, NR_110892.1:n.1566_1571del, NR_110893.2:n.1522_1527del, NR_110893.1:n.1522_1527del, NM_001290266.2:c.1111_1116del, NM_001290266.1:c.1111_1116del, NM_001290300.2:c.1129_1134del, NM_001290300.1:c.1129_1134del, NM_001290217.2:c.922_927del, NM_001290217.1:c.922_927del, NM_001290277.1:c.1120_1125del, NG_052961.1:g.72846_72851del, NP_000956.2:p.Ser420_Ser421del, NP_057236.1:p.Ser308_Ser309del, NP_001277145.1:p.Ser427_Ser428del, NP_001277205.1:p.Ser308_Ser309del, NP_001277195.1:p.Ser371_Ser372del, NP_001277229.1:p.Ser377_Ser378del, NP_001277146.1:p.Ser308_Ser309del, NP_001277206.1:p.Ser374_Ser375del

Select item 14731283849.

rs1473128384 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:25594533 (GRCh38)
3:25636024 (GRCh37)
Canonical SPDI:: NC_000003.12:25594532:T:G
Gene:: RARB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.25594533T>G, NC_000003.11:g.25636024T>G, NG_029013.3:g.770211T>G, NM_000965.5:c.1005T>G, NM_000965.4:c.1005T>G, NM_000965.3:c.1005T>G, NM_016152.4:c.669T>G, NM_016152.3:c.669T>G, NM_001290216.3:c.1026T>G, NM_001290216.2:c.1026T>G, NM_001290216.1:c.1026T>G, NM_001290276.2:c.669T>G, NM_001290276.1:c.669T>G, NR_110892.2:n.1313T>G, NR_110892.1:n.1313T>G, NR_110893.2:n.1269T>G, NR_110893.1:n.1269T>G, NM_001290266.2:c.858T>G, NM_001290266.1:c.858T>G, NM_001290300.2:c.876T>G, NM_001290300.1:c.876T>G, NM_001290217.2:c.669T>G, NM_001290217.1:c.669T>G, NM_001290277.1:c.867T>G

Select item 147094429510.

rs1470944295 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:25461308 (GRCh38)
3:25502799 (GRCh37)
Canonical SPDI:: NC_000003.12:25461307:C:T
Gene:: RARB (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.25461308C>T, NC_000003.11:g.25502799C>T, NG_029013.3:g.636986C>T, NM_000965.5:c.273C>T, NM_000965.4:c.273C>T, NM_000965.3:c.273C>T, NM_016152.4:c.-64C>T, NM_016152.3:c.-64C>T, NM_001290216.3:c.294C>T, NM_001290216.2:c.294C>T, NM_001290216.1:c.294C>T, NM_001290276.2:c.-64C>T, NM_001290276.1:c.-64C>T, NR_110892.2:n.742C>T, NR_110892.1:n.742C>T, NR_110893.2:n.742C>T, NR_110893.1:n.742C>T, NM_001290266.2:c.126C>T, NM_001290266.1:c.126C>T, NM_001290300.2:c.144C>T, NM_001290300.1:c.144C>T, NM_001290217.2:c.-64C>T, NM_001290217.1:c.-64C>T, NM_001290277.1:c.273C>T

Select item 147087258011.

rs1470872580 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:25428779 (GRCh38)
3:25470270 (GRCh37)
Canonical SPDI:: NC_000003.12:25428778:G:A
Gene:: RARB (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.25428779G>A, NC_000003.11:g.25470270G>A, NG_029013.3:g.604457G>A, NM_000965.5:c.48G>A, NM_000965.4:c.48G>A, NM_000965.3:c.48G>A, NM_001290276.2:c.-289G>A, NM_001290276.1:c.-289G>A, NR_110892.2:n.517G>A, NR_110892.1:n.517G>A, NR_110893.2:n.517G>A, NR_110893.1:n.517G>A, NM_001290277.1:c.48G>A

Select item 146970793912.

rs1469707939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:25594558 (GRCh38)
3:25636049 (GRCh37)
Canonical SPDI:: NC_000003.12:25594557:C:T
Gene:: RARB (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.25594558C>T, NC_000003.11:g.25636049C>T, NG_029013.3:g.770236C>T, NM_000965.5:c.1030C>T, NM_000965.4:c.1030C>T, NM_000965.3:c.1030C>T, NM_016152.4:c.694C>T, NM_016152.3:c.694C>T, NM_001290216.3:c.1051C>T, NM_001290216.2:c.1051C>T, NM_001290216.1:c.1051C>T, NM_001290276.2:c.694C>T, NM_001290276.1:c.694C>T, NR_110892.2:n.1338C>T, NR_110892.1:n.1338C>T, NR_110893.2:n.1294C>T, NR_110893.1:n.1294C>T, NM_001290266.2:c.883C>T, NM_001290266.1:c.883C>T, NM_001290300.2:c.901C>T, NM_001290300.1:c.901C>T, NM_001290217.2:c.694C>T, NM_001290217.1:c.694C>T, NM_001290277.1:c.892C>T

Select item 146876734913.

rs1468767349 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:25580603 (GRCh38)
3:25622094 (GRCh37)
Canonical SPDI:: NC_000003.12:25580602:G:C
Gene:: RARB (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.25580603G>C, NC_000003.11:g.25622094G>C, NG_029013.3:g.756281G>C, NM_000965.5:c.667G>C, NM_000965.4:c.667G>C, NM_000965.3:c.667G>C, NM_016152.4:c.331G>C, NM_016152.3:c.331G>C, NM_001290216.3:c.688G>C, NM_001290216.2:c.688G>C, NM_001290216.1:c.688G>C, NM_001290276.2:c.331G>C, NM_001290276.1:c.331G>C, NR_110892.2:n.975G>C, NR_110892.1:n.975G>C, NR_110893.2:n.1136G>C, NR_110893.1:n.1136G>C, NM_001290266.2:c.520G>C, NM_001290266.1:c.520G>C, NM_001290300.2:c.538G>C, NM_001290300.1:c.538G>C, NM_001290217.2:c.331G>C, NM_001290217.1:c.331G>C, NM_001290277.1:c.667G>C, NP_000956.2:p.Glu223Gln, NP_057236.1:p.Glu111Gln, NP_001277145.1:p.Glu230Gln, NP_001277205.1:p.Glu111Gln, NP_001277195.1:p.Glu174Gln, NP_001277229.1:p.Glu180Gln, NP_001277146.1:p.Glu111Gln, NP_001277206.1:p.Glu223Gln

Select item 146748708314.

rs1467487083 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:25580690 (GRCh38)
3:25622181 (GRCh37)
Canonical SPDI:: NC_000003.12:25580689:A:C
Gene:: RARB (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.0082/15 (Korea1K)
HGVS:: NC_000003.12:g.25580690A>C, NC_000003.11:g.25622181A>C, NG_029013.3:g.756368A>C, NM_000965.5:c.754A>C, NM_000965.4:c.754A>C, NM_000965.3:c.754A>C, NM_016152.4:c.418A>C, NM_016152.3:c.418A>C, NM_001290216.3:c.775A>C, NM_001290216.2:c.775A>C, NM_001290216.1:c.775A>C, NM_001290276.2:c.418A>C, NM_001290276.1:c.418A>C, NR_110892.2:n.1062A>C, NR_110892.1:n.1062A>C, NR_110893.2:n.1223A>C, NR_110893.1:n.1223A>C, NM_001290266.2:c.607A>C, NM_001290266.1:c.607A>C, NM_001290300.2:c.625A>C, NM_001290300.1:c.625A>C, NM_001290217.2:c.418A>C, NM_001290217.1:c.418A>C, NM_001290277.1:c.754A>C, NP_000956.2:p.Thr252Pro, NP_057236.1:p.Thr140Pro, NP_001277145.1:p.Thr259Pro, NP_001277205.1:p.Thr140Pro, NP_001277195.1:p.Thr203Pro, NP_001277229.1:p.Thr209Pro, NP_001277146.1:p.Thr140Pro, NP_001277206.1:p.Thr252Pro

Select item 146668524815.

rs1466685248 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCA>- [Show Flanks]
Chromosome:: 3:25596547 (GRCh38)
3:25638038 (GRCh37)
Canonical SPDI:: NC_000003.12:25596545:AGCA:A
Gene:: RARB (Varview)
Functional Consequence:: non_coding_transcript_variant,inframe_indel,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000003.12:g.25596547_25596549del, NC_000003.11:g.25638038_25638040del, NG_029013.3:g.772225_772227del, NM_000965.5:c.1278_1280del, NM_000965.4:c.1278_1280del, NM_000965.3:c.1278_1280del, NM_016152.4:c.942_944del, NM_016152.3:c.942_944del, NM_001290216.3:c.1299_1301del, NM_001290216.2:c.1299_1301del, NM_001290216.1:c.1299_1301del, NM_001290276.2:c.942_944del, NM_001290276.1:c.942_944del, NR_110892.2:n.1586_1588del, NR_110892.1:n.1586_1588del, NR_110893.2:n.1542_1544del, NR_110893.1:n.1542_1544del, NM_001290266.2:c.1131_1133del, NM_001290266.1:c.1131_1133del, NM_001290300.2:c.1149_1151del, NM_001290300.1:c.1149_1151del, NM_001290217.2:c.942_944del, NM_001290217.1:c.942_944del, NM_001290277.1:c.1140_1142del, NG_052961.1:g.72825_72827del, NP_000956.2:p.Glu426_His427delinsAsp, NP_057236.1:p.Glu314_His315delinsAsp, NP_001277145.1:p.Glu433_His434delinsAsp, NP_001277205.1:p.Glu314_His315delinsAsp, NP_001277195.1:p.Glu377_His378delinsAsp, NP_001277229.1:p.Glu383_His384delinsAsp, NP_001277146.1:p.Glu314_His315delinsAsp, NP_001277206.1:p.Glu380_His381delinsAsp

Select item 146667342116.

rs1466673421 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:25580571 (GRCh38)
3:25622062 (GRCh37)
Canonical SPDI:: NC_000003.12:25580570:G:A
Gene:: RARB (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.25580571G>A, NC_000003.11:g.25622062G>A, NG_029013.3:g.756249G>A, NM_000965.5:c.635G>A, NM_000965.4:c.635G>A, NM_000965.3:c.635G>A, NM_016152.4:c.299G>A, NM_016152.3:c.299G>A, NM_001290216.3:c.656G>A, NM_001290216.2:c.656G>A, NM_001290216.1:c.656G>A, NM_001290276.2:c.299G>A, NM_001290276.1:c.299G>A, NR_110892.2:n.943G>A, NR_110892.1:n.943G>A, NR_110893.2:n.1104G>A, NR_110893.1:n.1104G>A, NM_001290266.2:c.488G>A, NM_001290266.1:c.488G>A, NM_001290300.2:c.506G>A, NM_001290300.1:c.506G>A, NM_001290217.2:c.299G>A, NM_001290217.1:c.299G>A, NM_001290277.1:c.635G>A, NP_000956.2:p.Arg212Gln, NP_057236.1:p.Arg100Gln, NP_001277145.1:p.Arg219Gln, NP_001277205.1:p.Arg100Gln, NP_001277195.1:p.Arg163Gln, NP_001277229.1:p.Arg169Gln, NP_001277146.1:p.Arg100Gln, NP_001277206.1:p.Arg212Gln

Select item 146631504717.

rs1466315047 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:25596539 (GRCh38)
3:25638030 (GRCh37)
Canonical SPDI:: NC_000003.12:25596538:A:G
Gene:: RARB (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.25596539A>G, NC_000003.11:g.25638030A>G, NG_029013.3:g.772217A>G, NM_000965.5:c.1270A>G, NM_000965.4:c.1270A>G, NM_000965.3:c.1270A>G, NM_016152.4:c.934A>G, NM_016152.3:c.934A>G, NM_001290216.3:c.1291A>G, NM_001290216.2:c.1291A>G, NM_001290216.1:c.1291A>G, NM_001290276.2:c.934A>G, NM_001290276.1:c.934A>G, NR_110892.2:n.1578A>G, NR_110892.1:n.1578A>G, NR_110893.2:n.1534A>G, NR_110893.1:n.1534A>G, NM_001290266.2:c.1123A>G, NM_001290266.1:c.1123A>G, NM_001290300.2:c.1141A>G, NM_001290300.1:c.1141A>G, NM_001290217.2:c.934A>G, NM_001290217.1:c.934A>G, NM_001290277.1:c.1132A>G, NG_052961.1:g.72834T>C, NP_000956.2:p.Thr424Ala, NP_057236.1:p.Thr312Ala, NP_001277145.1:p.Thr431Ala, NP_001277205.1:p.Thr312Ala, NP_001277195.1:p.Thr375Ala, NP_001277229.1:p.Thr381Ala, NP_001277146.1:p.Thr312Ala, NP_001277206.1:p.Thr378Ala

Select item 145978071918.

rs1459780719 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:25593655 (GRCh38)
3:25635146 (GRCh37)
Canonical SPDI:: NC_000003.12:25593654:A:C
Gene:: RARB (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.25593655A>C, NC_000003.11:g.25635146A>C, NG_029013.3:g.769333A>C, NM_000965.5:c.939A>C, NM_000965.4:c.939A>C, NM_000965.3:c.939A>C, NM_016152.4:c.603A>C, NM_016152.3:c.603A>C, NM_001290216.3:c.960A>C, NM_001290216.2:c.960A>C, NM_001290216.1:c.960A>C, NM_001290276.2:c.603A>C, NM_001290276.1:c.603A>C, NR_110892.2:n.1247A>C, NR_110892.1:n.1247A>C, NM_001290266.2:c.792A>C, NM_001290266.1:c.792A>C, NM_001290300.2:c.810A>C, NM_001290300.1:c.810A>C, NM_001290217.2:c.603A>C, NM_001290217.1:c.603A>C, NM_001290277.1:c.801A>C, NP_000956.2:p.Glu313Asp, NP_057236.1:p.Glu201Asp, NP_001277145.1:p.Glu320Asp, NP_001277205.1:p.Glu201Asp, NP_001277195.1:p.Glu264Asp, NP_001277229.1:p.Glu270Asp, NP_001277146.1:p.Glu201Asp, NP_001277206.1:p.Glu267Asp

Select item 143642503119.

rs1436425031 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:25593677 (GRCh38)
3:25635168 (GRCh37)
Canonical SPDI:: NC_000003.12:25593676:C:A
Gene:: RARB (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.25593677C>A, NC_000003.11:g.25635168C>A, NG_029013.3:g.769355C>A, NM_000965.5:c.961C>A, NM_000965.4:c.961C>A, NM_000965.3:c.961C>A, NM_016152.4:c.625C>A, NM_016152.3:c.625C>A, NM_001290216.3:c.982C>A, NM_001290216.2:c.982C>A, NM_001290216.1:c.982C>A, NM_001290276.2:c.625C>A, NM_001290276.1:c.625C>A, NR_110892.2:n.1269C>A, NR_110892.1:n.1269C>A, NM_001290266.2:c.814C>A, NM_001290266.1:c.814C>A, NM_001290300.2:c.832C>A, NM_001290300.1:c.832C>A, NM_001290217.2:c.625C>A, NM_001290217.1:c.625C>A, NM_001290277.1:c.823C>A, NP_000956.2:p.Leu321Ile, NP_057236.1:p.Leu209Ile, NP_001277145.1:p.Leu328Ile, NP_001277205.1:p.Leu209Ile, NP_001277195.1:p.Leu272Ile, NP_001277229.1:p.Leu278Ile, NP_001277146.1:p.Leu209Ile, NP_001277206.1:p.Leu275Ile

Select item 143182857420.

rs1431828574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:25594661 (GRCh38)
3:25636152 (GRCh37)
Canonical SPDI:: NC_000003.12:25594660:G:A
Gene:: RARB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.25594661G>A, NC_000003.11:g.25636152G>A, NG_029013.3:g.770339G>A, NM_000965.5:c.1133G>A, NM_000965.4:c.1133G>A, NM_000965.3:c.1133G>A, NM_016152.4:c.797G>A, NM_016152.3:c.797G>A, NM_001290216.3:c.1154G>A, NM_001290216.2:c.1154G>A, NM_001290216.1:c.1154G>A, NM_001290276.2:c.797G>A, NM_001290276.1:c.797G>A, NR_110892.2:n.1441G>A, NR_110892.1:n.1441G>A, NR_110893.2:n.1397G>A, NR_110893.1:n.1397G>A, NM_001290266.2:c.986G>A, NM_001290266.1:c.986G>A, NM_001290300.2:c.1004G>A, NM_001290300.1:c.1004G>A, NM_001290217.2:c.797G>A, NM_001290217.1:c.797G>A, NM_001290277.1:c.995G>A, NP_000956.2:p.Arg378His, NP_057236.1:p.Arg266His, NP_001277145.1:p.Arg385His, NP_001277205.1:p.Arg266His, NP_001277195.1:p.Arg329His, NP_001277229.1:p.Arg335His, NP_001277146.1:p.Arg266His, NP_001277206.1:p.Arg332His

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