SNP Links for Protein (Select 365192541) - SNP

Links from Protein

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Select item 14893923041.

rs1489392304 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTT>- [Show Flanks]
Chromosome:: 17:42573559 (GRCh38)
17:40725577 (GRCh37)
Canonical SPDI:: NC_000017.11:42573556:TTCTTT:TT
Gene:: MLX (Varview), PSMC3IP (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.42573559_42573562del, NC_000017.10:g.40725577_40725580del, NG_029442.1:g.11500_11503del, NG_031960.1:g.9272_9275del, NM_013290.7:c.365_368del, NM_013290.6:c.365_368del, NM_016556.4:c.401_404del, NM_016556.3:c.401_404del, NM_001256015.2:c.164_167del, NM_001256015.1:c.164_167del, NM_001256014.2:c.212_215del, NM_001256014.1:c.212_215del, NM_001256016.2:c.164_167del, NM_001256016.1:c.164_167del, NR_045671.2:n.438_441del, NR_045671.1:n.425_428del, NR_045669.1:n.826_829del, NR_045670.1:n.449_452del, NP_037422.2:p.Lys122fs, NP_057640.1:p.Lys134fs, NP_001242944.1:p.Lys55fs, NP_001242943.1:p.Lys71fs, NP_001242945.1:p.Lys55fs

Select item 14856641522.

rs1485664152 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42573347 (GRCh38)
17:40725365 (GRCh37)
Canonical SPDI:: NC_000017.11:42573346:C:T
Gene:: MLX (Varview), PSMC3IP (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42573347C>T, NC_000017.10:g.40725365C>T, NG_029442.1:g.11288C>T, NG_031960.1:g.9485G>A, NM_013290.7:c.465G>A, NM_013290.6:c.465G>A, NM_016556.4:c.501G>A, NM_016556.3:c.501G>A, NM_001256015.2:c.264G>A, NM_001256015.1:c.264G>A, NM_001256014.2:c.312G>A, NM_001256014.1:c.312G>A, NM_001256016.2:c.264G>A, NM_001256016.1:c.264G>A, NR_045671.2:n.538G>A, NR_045671.1:n.525G>A, NR_045669.1:n.926G>A, NR_045670.1:n.549G>A

Select item 14810713833.

rs1481071383 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42574099 (GRCh38)
17:40726117 (GRCh37)
Canonical SPDI:: NC_000017.11:42574098:C:T
Gene:: PSMC3IP (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.42574099C>T, NC_000017.10:g.40726117C>T, NG_029442.1:g.12040C>T, NG_031960.1:g.8733G>A, NM_013290.7:c.337G>A, NM_013290.6:c.337G>A, NM_016556.4:c.337G>A, NM_016556.3:c.337G>A, NM_001256015.2:c.100G>A, NM_001256015.1:c.100G>A, NM_001256014.2:c.148G>A, NM_001256014.1:c.148G>A, NM_001256016.2:c.100G>A, NM_001256016.1:c.100G>A, NR_045669.1:n.482G>A, NP_037422.2:p.Glu113Lys, NP_057640.1:p.Glu113Lys, NP_001242944.1:p.Glu34Lys, NP_001242943.1:p.Glu50Lys, NP_001242945.1:p.Glu34Lys

Select item 14705835484.

rs1470583548 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:42573009 (GRCh38)
17:40725027 (GRCh37)
Canonical SPDI:: NC_000017.11:42573008:C:G
Gene:: MLX (Varview), PSMC3IP (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42573009C>G, NC_000017.10:g.40725027C>G, NG_029442.1:g.10950C>G, NM_170607.3:c.*1406C>G, NM_170607.2:c.*1406C>G, NM_198204.2:c.*1406C>G, NM_198204.1:c.*1406C>G, NM_198205.2:c.*1406C>G, NM_198205.1:c.*1406C>G, NG_031960.1:g.9823G>C, NM_013290.7:c.577G>C, NM_013290.6:c.577G>C, NM_016556.4:c.613G>C, NM_016556.3:c.613G>C, NM_001256015.2:c.376G>C, NM_001256015.1:c.376G>C, NM_001256014.2:c.424G>C, NM_001256014.1:c.424G>C, NM_001256016.2:c.376G>C, NM_001256016.1:c.376G>C, NR_045671.2:n.650G>C, NR_045671.1:n.637G>C, NR_045669.1:n.1038G>C, NR_045670.1:n.661G>C, NM_013383.2:c.*1405C>G, NM_170608.1:c.*1405C>G, NP_037422.2:p.Glu193Gln, NP_057640.1:p.Glu205Gln, NP_001242944.1:p.Glu126Gln, NP_001242943.1:p.Glu142Gln, NP_001242945.1:p.Glu126Gln

Select item 14605880785.

rs1460588078 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:42573547 (GRCh38)
17:40725565 (GRCh37)
Canonical SPDI:: NC_000017.11:42573546:A:C
Gene:: MLX (Varview), PSMC3IP (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.42573547A>C, NC_000017.10:g.40725565A>C, NG_029442.1:g.11488A>C, NG_031960.1:g.9285T>G, NM_013290.7:c.378T>G, NM_013290.6:c.378T>G, NM_016556.4:c.414T>G, NM_016556.3:c.414T>G, NM_001256015.2:c.177T>G, NM_001256015.1:c.177T>G, NM_001256014.2:c.225T>G, NM_001256014.1:c.225T>G, NM_001256016.2:c.177T>G, NM_001256016.1:c.177T>G, NR_045671.2:n.451T>G, NR_045671.1:n.438T>G, NR_045669.1:n.839T>G, NR_045670.1:n.462T>G

Select item 14494068826.

rs1449406882 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:42574114 (GRCh38)
17:40726132 (GRCh37)
Canonical SPDI:: NC_000017.11:42574113:G:A
Gene:: PSMC3IP (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.42574114G>A, NC_000017.10:g.40726132G>A, NG_029442.1:g.12055G>A, NG_031960.1:g.8718C>T, NM_013290.7:c.322C>T, NM_013290.6:c.322C>T, NM_016556.4:c.322C>T, NM_016556.3:c.322C>T, NM_001256015.2:c.85C>T, NM_001256015.1:c.85C>T, NM_001256014.2:c.133C>T, NM_001256014.1:c.133C>T, NM_001256016.2:c.85C>T, NM_001256016.1:c.85C>T, NR_045669.1:n.467C>T, NP_037422.2:p.Arg108Cys, NP_057640.1:p.Arg108Cys, NP_001242944.1:p.Arg29Cys, NP_001242943.1:p.Arg45Cys, NP_001242945.1:p.Arg29Cys

Select item 14467474047.

rs1446747404 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42574124 (GRCh38)
17:40726142 (GRCh37)
Canonical SPDI:: NC_000017.11:42574123:C:T
Gene:: PSMC3IP (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.42574124C>T, NC_000017.10:g.40726142C>T, NG_029442.1:g.12065C>T, NG_031960.1:g.8708G>A, NM_013290.7:c.312G>A, NM_013290.6:c.312G>A, NM_016556.4:c.312G>A, NM_016556.3:c.312G>A, NM_001256015.2:c.75G>A, NM_001256015.1:c.75G>A, NM_001256014.2:c.123G>A, NM_001256014.1:c.123G>A, NM_001256016.2:c.75G>A, NM_001256016.1:c.75G>A, NR_045669.1:n.457G>A

Select item 14418058598.

rs1441805859 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:42574174 (GRCh38)
17:40726192 (GRCh37)
Canonical SPDI:: NC_000017.11:42574173:C:G
Gene:: PSMC3IP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.42574174C>G, NC_000017.10:g.40726192C>G, NG_029442.1:g.12115C>G, NG_031960.1:g.8658G>C, NM_013290.7:c.262G>C, NM_013290.6:c.262G>C, NM_016556.4:c.262G>C, NM_016556.3:c.262G>C, NM_001256015.2:c.25G>C, NM_001256015.1:c.25G>C, NM_001256014.2:c.73G>C, NM_001256014.1:c.73G>C, NM_001256016.2:c.25G>C, NM_001256016.1:c.25G>C, NR_045669.1:n.407G>C, NP_037422.2:p.Val88Leu, NP_057640.1:p.Val88Leu, NP_001242944.1:p.Val9Leu, NP_001242943.1:p.Val25Leu, NP_001242945.1:p.Val9Leu

Select item 14326075459.

rs1432607545 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:42574168 (GRCh38)
17:40726186 (GRCh37)
Canonical SPDI:: NC_000017.11:42574167:C:G,NC_000017.11:42574167:C:T
Gene:: PSMC3IP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.00055/1 (Korea1K)
HGVS:: NC_000017.11:g.42574168C>G, NC_000017.11:g.42574168C>T, NC_000017.10:g.40726186C>G, NC_000017.10:g.40726186C>T, NG_029442.1:g.12109C>G, NG_029442.1:g.12109C>T, NG_031960.1:g.8664G>C, NG_031960.1:g.8664G>A, NM_013290.7:c.268G>C, NM_013290.7:c.268G>A, NM_013290.6:c.268G>C, NM_013290.6:c.268G>A, NM_016556.4:c.268G>C, NM_016556.4:c.268G>A, NM_016556.3:c.268G>C, NM_016556.3:c.268G>A, NM_001256015.2:c.31G>C, NM_001256015.2:c.31G>A, NM_001256015.1:c.31G>C, NM_001256015.1:c.31G>A, NM_001256014.2:c.79G>C, NM_001256014.2:c.79G>A, NM_001256014.1:c.79G>C, NM_001256014.1:c.79G>A, NM_001256016.2:c.31G>C, NM_001256016.2:c.31G>A, NM_001256016.1:c.31G>C, NM_001256016.1:c.31G>A, NR_045669.1:n.413G>C, NR_045669.1:n.413G>A, NP_037422.2:p.Asp90His, NP_037422.2:p.Asp90Asn, NP_057640.1:p.Asp90His, NP_057640.1:p.Asp90Asn, NP_001242944.1:p.Asp11His, NP_001242944.1:p.Asp11Asn, NP_001242943.1:p.Asp27His, NP_001242943.1:p.Asp27Asn, NP_001242945.1:p.Asp11His, NP_001242945.1:p.Asp11Asn

Select item 143245799510.

rs1432457995 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 17:42573326 (GRCh38)
17:40725344 (GRCh37)
Canonical SPDI:: NC_000017.11:42573325:CC:C
Gene:: MLX (Varview), PSMC3IP (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,frameshift_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.000071/1 (ALFA)
-=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.42573327del, NC_000017.10:g.40725345del, NG_029442.1:g.11268del, NG_031960.1:g.9506del, NM_013290.7:c.486del, NM_013290.6:c.486del, NM_016556.4:c.522del, NM_016556.3:c.522del, NM_001256015.2:c.285del, NM_001256015.1:c.285del, NM_001256014.2:c.333del, NM_001256014.1:c.333del, NM_001256016.2:c.285del, NM_001256016.1:c.285del, NR_045671.2:n.559del, NR_045671.1:n.546del, NR_045669.1:n.947del, NR_045670.1:n.570del, NP_037422.2:p.Lys163fs, NP_057640.1:p.Lys175fs, NP_001242944.1:p.Lys96fs, NP_001242943.1:p.Lys112fs, NP_001242945.1:p.Lys96fs

Select item 139133186511.

rs1391331865 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:42573110 (GRCh38)
17:40725128 (GRCh37)
Canonical SPDI:: NC_000017.11:42573109:G:T
Gene:: MLX (Varview), PSMC3IP (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42573110G>T, NC_000017.10:g.40725128G>T, NG_029442.1:g.11051G>T, NM_170607.3:c.*1507G>T, NM_170607.2:c.*1507G>T, NM_198204.2:c.*1507G>T, NM_198204.1:c.*1507G>T, NM_198205.2:c.*1507G>T, NM_198205.1:c.*1507G>T, NG_031960.1:g.9722C>A, NM_013290.7:c.558C>A, NM_013290.6:c.558C>A, NM_016556.4:c.594C>A, NM_016556.3:c.594C>A, NM_001256015.2:c.357C>A, NM_001256015.1:c.357C>A, NM_001256014.2:c.405C>A, NM_001256014.1:c.405C>A, NM_001256016.2:c.357C>A, NM_001256016.1:c.357C>A, NR_045671.2:n.631C>A, NR_045671.1:n.618C>A, NR_045669.1:n.1019C>A, NR_045670.1:n.642C>A, NM_013383.2:c.*1506G>T, NM_170608.1:c.*1506G>T, NP_037422.2:p.Phe186Leu, NP_057640.1:p.Phe198Leu, NP_001242944.1:p.Phe119Leu, NP_001242943.1:p.Phe135Leu, NP_001242945.1:p.Phe119Leu

Select item 138969654612.

rs1389696546 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:42573502 (GRCh38)
17:40725520 (GRCh37)
Canonical SPDI:: NC_000017.11:42573501:AT:
Gene:: MLX (Varview), PSMC3IP (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000034/9 (TOPMED)
HGVS:: NC_000017.11:g.42573502_42573503del, NC_000017.10:g.40725520_40725521del, NG_029442.1:g.11443_11444del, NG_031960.1:g.9329_9330del, NM_013290.7:c.422_423del, NM_013290.6:c.422_423del, NM_016556.4:c.458_459del, NM_016556.3:c.458_459del, NM_001256015.2:c.221_222del, NM_001256015.1:c.221_222del, NM_001256014.2:c.269_270del, NM_001256014.1:c.269_270del, NM_001256016.2:c.221_222del, NM_001256016.1:c.221_222del, NR_045671.2:n.495_496del, NR_045671.1:n.482_483del, NR_045669.1:n.883_884del, NR_045670.1:n.506_507del, NP_037422.2:p.His141fs, NP_057640.1:p.His153fs, NP_001242944.1:p.His74fs, NP_001242943.1:p.His90fs, NP_001242945.1:p.His74fs

Select item 138316325213.

rs1383163252 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42573021 (GRCh38)
17:40725039 (GRCh37)
Canonical SPDI:: NC_000017.11:42573020:C:T
Gene:: MLX (Varview), PSMC3IP (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42573021C>T, NC_000017.10:g.40725039C>T, NG_029442.1:g.10962C>T, NM_170607.3:c.*1418C>T, NM_170607.2:c.*1418C>T, NM_198204.2:c.*1418C>T, NM_198204.1:c.*1418C>T, NM_198205.2:c.*1418C>T, NM_198205.1:c.*1418C>T, NG_031960.1:g.9811G>A, NM_013290.7:c.565G>A, NM_013290.6:c.565G>A, NM_016556.4:c.601G>A, NM_016556.3:c.601G>A, NM_001256015.2:c.364G>A, NM_001256015.1:c.364G>A, NM_001256014.2:c.412G>A, NM_001256014.1:c.412G>A, NM_001256016.2:c.364G>A, NM_001256016.1:c.364G>A, NR_045671.2:n.638G>A, NR_045671.1:n.625G>A, NR_045669.1:n.1026G>A, NR_045670.1:n.649G>A, NM_013383.2:c.*1417C>T, NM_170608.1:c.*1417C>T, NP_037422.2:p.Glu189Lys, NP_057640.1:p.Glu201Lys, NP_001242944.1:p.Glu122Lys, NP_001242943.1:p.Glu138Lys, NP_001242945.1:p.Glu122Lys

Select item 138038044914.

rs1380380449 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTCCTC>-,TTCCTCTTCCTC [Show Flanks]
Chromosome:: 17:42573324 (GRCh38)
17:40725342 (GRCh37)
Canonical SPDI:: NC_000017.11:42573312:TCCTCTTCCTCTTCCTC:TCCTCTTCCTC,NC_000017.11:42573312:TCCTCTTCCTCTTCCTC:TCCTCTTCCTCTTCCTCTTCCTC
Gene:: MLX (Varview), PSMC3IP (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,inframe_insertion,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCCTCTTCCTCTTCCTCTTCCTC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42573318TTCCTC[1], NC_000017.11:g.42573318TTCCTC[3], NC_000017.10:g.40725336TTCCTC[1], NC_000017.10:g.40725336TTCCTC[3], NG_029442.1:g.11259TTCCTC[1], NG_029442.1:g.11259TTCCTC[3], NG_031960.1:g.9508AGAGGA[1], NG_031960.1:g.9508AGAGGA[3], NM_013290.7:c.488AGAGGA[1], NM_013290.7:c.488AGAGGA[3], NM_013290.6:c.488AGAGGA[1], NM_013290.6:c.488AGAGGA[3], NM_016556.4:c.524AGAGGA[1], NM_016556.4:c.524AGAGGA[3], NM_016556.3:c.524AGAGGA[1], NM_016556.3:c.524AGAGGA[3], NM_001256015.2:c.287AGAGGA[1], NM_001256015.2:c.287AGAGGA[3], NM_001256015.1:c.287AGAGGA[1], NM_001256015.1:c.287AGAGGA[3], NM_001256014.2:c.335AGAGGA[1], NM_001256014.2:c.335AGAGGA[3], NM_001256014.1:c.335AGAGGA[1], NM_001256014.1:c.335AGAGGA[3], NM_001256016.2:c.287AGAGGA[1], NM_001256016.2:c.287AGAGGA[3], NM_001256016.1:c.287AGAGGA[1], NM_001256016.1:c.287AGAGGA[3], NR_045671.2:n.561AGAGGA[1], NR_045671.2:n.561AGAGGA[3], NR_045671.1:n.548AGAGGA[1], NR_045671.1:n.548AGAGGA[3], NR_045669.1:n.949AGAGGA[1], NR_045669.1:n.949AGAGGA[3], NR_045670.1:n.572AGAGGA[1], NR_045670.1:n.572AGAGGA[3], NP_037422.2:p.163KR[1], NP_037422.2:p.163KR[3], NP_057640.1:p.175KR[1], NP_057640.1:p.175KR[3], NP_001242944.1:p.96KR[1], NP_001242944.1:p.96KR[3], NP_001242943.1:p.112KR[1], NP_001242943.1:p.112KR[3], NP_001242945.1:p.96KR[1], NP_001242945.1:p.96KR[3]

Select item 137947369415.

rs1379473694 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:42573024 (GRCh38)
17:40725042 (GRCh37)
Canonical SPDI:: NC_000017.11:42573023:C:G
Gene:: MLX (Varview), PSMC3IP (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.42573024C>G, NC_000017.10:g.40725042C>G, NG_029442.1:g.10965C>G, NM_170607.3:c.*1421C>G, NM_170607.2:c.*1421C>G, NM_198204.2:c.*1421C>G, NM_198204.1:c.*1421C>G, NM_198205.2:c.*1421C>G, NM_198205.1:c.*1421C>G, NG_031960.1:g.9808G>C, NM_013290.7:c.562G>C, NM_013290.6:c.562G>C, NM_016556.4:c.598G>C, NM_016556.3:c.598G>C, NM_001256015.2:c.361G>C, NM_001256015.1:c.361G>C, NM_001256014.2:c.409G>C, NM_001256014.1:c.409G>C, NM_001256016.2:c.361G>C, NM_001256016.1:c.361G>C, NR_045671.2:n.635G>C, NR_045671.1:n.622G>C, NR_045669.1:n.1023G>C, NR_045670.1:n.646G>C, NM_013383.2:c.*1420C>G, NM_170608.1:c.*1420C>G, NP_037422.2:p.Glu188Gln, NP_057640.1:p.Glu200Gln, NP_001242944.1:p.Glu121Gln, NP_001242943.1:p.Glu137Gln, NP_001242945.1:p.Glu121Gln

Select item 137162921716.

rs1371629217 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:42574171 (GRCh38)
17:40726189 (GRCh37)
Canonical SPDI:: NC_000017.11:42574170:G:C
Gene:: PSMC3IP (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.42574171G>C, NC_000017.10:g.40726189G>C, NG_029442.1:g.12112G>C, NG_031960.1:g.8661C>G, NM_013290.7:c.265C>G, NM_013290.6:c.265C>G, NM_016556.4:c.265C>G, NM_016556.3:c.265C>G, NM_001256015.2:c.28C>G, NM_001256015.1:c.28C>G, NM_001256014.2:c.76C>G, NM_001256014.1:c.76C>G, NM_001256016.2:c.28C>G, NM_001256016.1:c.28C>G, NR_045669.1:n.410C>G, NP_037422.2:p.Leu89Val, NP_057640.1:p.Leu89Val, NP_001242944.1:p.Leu10Val, NP_001242943.1:p.Leu26Val, NP_001242945.1:p.Leu10Val

Select item 136454804017.

rs1364548040 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>- [Show Flanks]
Chromosome:: 17:42573559 (GRCh38)
17:40725577 (GRCh37)
Canonical SPDI:: NC_000017.11:42573555:CTTCTT:CTT
Gene:: MLX (Varview), PSMC3IP (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTTCTT=0./0 (ALFA)
-=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42573556CTT[1], NC_000017.10:g.40725574CTT[1], NG_029442.1:g.11497CTT[1], NG_031960.1:g.9271AAG[1], NM_013290.7:c.364AAG[1], NM_013290.6:c.364AAG[1], NM_016556.4:c.400AAG[1], NM_016556.3:c.400AAG[1], NM_001256015.2:c.163AAG[1], NM_001256015.1:c.163AAG[1], NM_001256014.2:c.211AAG[1], NM_001256014.1:c.211AAG[1], NM_001256016.2:c.163AAG[1], NM_001256016.1:c.163AAG[1], NR_045671.2:n.437AAG[1], NR_045671.1:n.424AAG[1], NR_045669.1:n.825AAG[1], NR_045670.1:n.448AAG[1], NP_037422.2:p.Lys123del, NP_057640.1:p.Lys135del, NP_001242944.1:p.Lys56del, NP_001242943.1:p.Lys72del, NP_001242945.1:p.Lys56del

Select item 135367937918.

rs1353679379 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:42573117 (GRCh38)
17:40725135 (GRCh37)
Canonical SPDI:: NC_000017.11:42573116:T:C
Gene:: MLX (Varview), PSMC3IP (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,3_prime_UTR_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_000017.11:g.42573117T>C, NC_000017.10:g.40725135T>C, NG_029442.1:g.11058T>C, NM_170607.3:c.*1514T>C, NM_170607.2:c.*1514T>C, NM_198204.2:c.*1514T>C, NM_198204.1:c.*1514T>C, NM_198205.2:c.*1514T>C, NM_198205.1:c.*1514T>C, NG_031960.1:g.9715A>G, NM_013290.7:c.551A>G, NM_013290.6:c.551A>G, NM_016556.4:c.587A>G, NM_016556.3:c.587A>G, NM_001256015.2:c.350A>G, NM_001256015.1:c.350A>G, NM_001256014.2:c.398A>G, NM_001256014.1:c.398A>G, NM_001256016.2:c.350A>G, NM_001256016.1:c.350A>G, NR_045671.2:n.624A>G, NR_045671.1:n.611A>G, NR_045669.1:n.1012A>G, NR_045670.1:n.635A>G, NM_013383.2:c.*1513T>C, NM_170608.1:c.*1513T>C, NP_037422.2:p.Lys184Arg, NP_057640.1:p.Lys196Arg, NP_001242944.1:p.Lys117Arg, NP_001242943.1:p.Lys133Arg, NP_001242945.1:p.Lys117Arg

Select item 135047366419.

rs1350473664 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:42574191 (GRCh38)
17:40726209 (GRCh37)
Canonical SPDI:: NC_000017.11:42574190:C:G
Gene:: PSMC3IP (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42574191C>G, NC_000017.10:g.40726209C>G, NG_029442.1:g.12132C>G, NG_031960.1:g.8641G>C, NM_013290.7:c.245G>C, NM_013290.6:c.245G>C, NM_016556.4:c.245G>C, NM_016556.3:c.245G>C, NM_001256015.2:c.8G>C, NM_001256015.1:c.8G>C, NM_001256014.2:c.56G>C, NM_001256014.1:c.56G>C, NM_001256016.2:c.8G>C, NM_001256016.1:c.8G>C, NR_045669.1:n.390G>C, NP_037422.2:p.Ser82Thr, NP_057640.1:p.Ser82Thr, NP_001242944.1:p.Ser3Thr, NP_001242943.1:p.Ser19Thr, NP_001242945.1:p.Ser3Thr

Select item 135020674920.

rs1350206749 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:42574115 (GRCh38)
17:40726133 (GRCh37)
Canonical SPDI:: NC_000017.11:42574114:G:T
Gene:: PSMC3IP (Varview)
Functional Consequence:: stop_gained,intron_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.42574115G>T, NC_000017.10:g.40726133G>T, NG_029442.1:g.12056G>T, NG_031960.1:g.8717C>A, NM_013290.7:c.321C>A, NM_013290.6:c.321C>A, NM_016556.4:c.321C>A, NM_016556.3:c.321C>A, NM_001256015.2:c.84C>A, NM_001256015.1:c.84C>A, NM_001256014.2:c.132C>A, NM_001256014.1:c.132C>A, NM_001256016.2:c.84C>A, NM_001256016.1:c.84C>A, NR_045669.1:n.466C>A, NP_037422.2:p.Cys107Ter, NP_057640.1:p.Cys107Ter, NP_001242944.1:p.Cys28Ter, NP_001242943.1:p.Cys44Ter, NP_001242945.1:p.Cys28Ter

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