SNP Links for Protein (Select 807201172) - SNP

Links from Protein

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Select item 14907792271.

rs1490779227 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:132077892 (GRCh38)
X:131211920 (GRCh37)
Canonical SPDI:: NC_000023.11:132077891:A:G
Gene:: FRMD7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000038/4 (GnomAD)
HGVS:: NC_000023.11:g.132077892A>G, NC_000023.10:g.131211920A>G, NG_029562.1:g.59676A>G, NG_012347.1:g.55131T>C, NM_194277.3:c.2125T>C, NM_194277.2:c.2125T>C, NM_001306193.2:c.2080T>C, NM_001306193.1:c.2080T>C, XM_017029947.3:c.2077T>C, XM_017029947.2:c.2077T>C, XM_017029947.1:c.2077T>C, XM_017029949.3:c.1651T>C, XM_017029949.2:c.1651T>C, XM_017029949.1:c.1651T>C, XM_017029948.3:c.1870T>C, XM_017029948.2:c.1870T>C, XM_017029948.1:c.1870T>C, NP_919253.1:p.Cys709Arg, NP_001293122.1:p.Cys694Arg, XP_016885436.1:p.Cys693Arg, XP_016885438.1:p.Cys551Arg, XP_016885437.1:p.Cys624Arg

Select item 14906159802.

rs1490615980 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:132078023 (GRCh38)
X:131212051 (GRCh37)
Canonical SPDI:: NC_000023.11:132078022:A:G
Gene:: FRMD7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.132078023A>G, NC_000023.10:g.131212051A>G, NG_012347.1:g.55000T>C, NM_194277.3:c.1994T>C, NM_194277.2:c.1994T>C, NM_001306193.2:c.1949T>C, NM_001306193.1:c.1949T>C, XM_017029947.3:c.1946T>C, XM_017029947.2:c.1946T>C, XM_017029947.1:c.1946T>C, XM_017029949.3:c.1520T>C, XM_017029949.2:c.1520T>C, XM_017029949.1:c.1520T>C, XM_017029948.3:c.1739T>C, XM_017029948.2:c.1739T>C, XM_017029948.1:c.1739T>C, NP_919253.1:p.Leu665Ser, NP_001293122.1:p.Leu650Ser, XP_016885436.1:p.Leu649Ser, XP_016885438.1:p.Leu507Ser, XP_016885437.1:p.Leu580Ser

Select item 14902863283.

rs1490286328 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:132078334 (GRCh38)
X:131212362 (GRCh37)
Canonical SPDI:: NC_000023.11:132078333:G:T
Gene:: FRMD7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.132078334G>T, NC_000023.10:g.131212362G>T, NG_012347.1:g.54689C>A, NM_194277.3:c.1683C>A, NM_194277.2:c.1683C>A, NM_001306193.2:c.1638C>A, NM_001306193.1:c.1638C>A, XM_017029947.3:c.1635C>A, XM_017029947.2:c.1635C>A, XM_017029947.1:c.1635C>A, XM_017029949.3:c.1209C>A, XM_017029949.2:c.1209C>A, XM_017029949.1:c.1209C>A, XM_017029948.3:c.1428C>A, XM_017029948.2:c.1428C>A, XM_017029948.1:c.1428C>A, NP_919253.1:p.Ser561Arg, NP_001293122.1:p.Ser546Arg, XP_016885436.1:p.Ser545Arg, XP_016885438.1:p.Ser403Arg, XP_016885437.1:p.Ser476Arg

Select item 14894522024.

rs1489452202 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:132078804 (GRCh38)
X:131212832 (GRCh37)
Canonical SPDI:: NC_000023.11:132078803:G:A
Gene:: FRMD7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.132078804G>A, NC_000023.10:g.131212832G>A, NG_012347.1:g.54219C>T, NM_194277.3:c.1213C>T, NM_194277.2:c.1213C>T, NM_001306193.2:c.1168C>T, NM_001306193.1:c.1168C>T, XM_017029947.3:c.1165C>T, XM_017029947.2:c.1165C>T, XM_017029947.1:c.1165C>T, XM_017029949.3:c.739C>T, XM_017029949.2:c.739C>T, XM_017029949.1:c.739C>T, XM_017029948.3:c.958C>T, XM_017029948.2:c.958C>T, XM_017029948.1:c.958C>T

Select item 14878630435.

rs1487863043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:132097280 (GRCh38)
X:131231308 (GRCh37)
Canonical SPDI:: NC_000023.11:132097279:C:A
Gene:: FRMD7 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000023.11:g.132097280C>A, NC_000023.10:g.131231308C>A, NG_012347.1:g.35743G>T, NM_194277.3:c.270G>T, NM_194277.2:c.270G>T, NM_001306193.2:c.225G>T, NM_001306193.1:c.225G>T, XM_017029947.3:c.222G>T, XM_017029947.2:c.222G>T, XM_017029947.1:c.222G>T

Select item 14863424106.

rs1486342410 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:132078545 (GRCh38)
X:131212573 (GRCh37)
Canonical SPDI:: NC_000023.11:132078544:A:T
Gene:: FRMD7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.132078545A>T, NC_000023.10:g.131212573A>T, NG_012347.1:g.54478T>A, NM_194277.3:c.1472T>A, NM_194277.2:c.1472T>A, NM_001306193.2:c.1427T>A, NM_001306193.1:c.1427T>A, XM_017029947.3:c.1424T>A, XM_017029947.2:c.1424T>A, XM_017029947.1:c.1424T>A, XM_017029949.3:c.998T>A, XM_017029949.2:c.998T>A, XM_017029949.1:c.998T>A, XM_017029948.3:c.1217T>A, XM_017029948.2:c.1217T>A, XM_017029948.1:c.1217T>A, NP_919253.1:p.Met491Lys, NP_001293122.1:p.Met476Lys, XP_016885436.1:p.Met475Lys, XP_016885438.1:p.Met333Lys, XP_016885437.1:p.Met406Lys

Select item 14843881397.

rs1484388139 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:132078425 (GRCh38)
X:131212453 (GRCh37)
Canonical SPDI:: NC_000023.11:132078424:G:T
Gene:: FRMD7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.132078425G>T, NC_000023.10:g.131212453G>T, NG_012347.1:g.54598C>A, NM_194277.3:c.1592C>A, NM_194277.2:c.1592C>A, NM_001306193.2:c.1547C>A, NM_001306193.1:c.1547C>A, XM_017029947.3:c.1544C>A, XM_017029947.2:c.1544C>A, XM_017029947.1:c.1544C>A, XM_017029949.3:c.1118C>A, XM_017029949.2:c.1118C>A, XM_017029949.1:c.1118C>A, XM_017029948.3:c.1337C>A, XM_017029948.2:c.1337C>A, XM_017029948.1:c.1337C>A, NP_919253.1:p.Ala531Asp, NP_001293122.1:p.Ala516Asp, XP_016885436.1:p.Ala515Asp, XP_016885438.1:p.Ala373Asp, XP_016885437.1:p.Ala446Asp

Select item 14839844068.

rs1483984406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:132086007 (GRCh38)
X:131220035 (GRCh37)
Canonical SPDI:: NC_000023.11:132086006:G:C
Gene:: FRMD7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.132086007G>C, NC_000023.10:g.131220035G>C, NG_012347.1:g.47016C>G, NM_194277.3:c.410C>G, NM_194277.2:c.410C>G, NM_001306193.2:c.365C>G, NM_001306193.1:c.365C>G, XM_017029947.3:c.362C>G, XM_017029947.2:c.362C>G, XM_017029947.1:c.362C>G, XM_017029949.3:c.-65C>G, XM_017029949.2:c.-65C>G, XM_017029949.1:c.-65C>G, XM_017029948.3:c.155C>G, XM_017029948.2:c.155C>G, XM_017029948.1:c.155C>G, NP_919253.1:p.Thr137Arg, NP_001293122.1:p.Thr122Arg, XP_016885436.1:p.Thr121Arg, XP_016885437.1:p.Thr52Arg

Select item 14793410209.

rs1479341020 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:132078712 (GRCh38)
X:131212740 (GRCh37)
Canonical SPDI:: NC_000023.11:132078711:G:A
Gene:: FRMD7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.132078712G>A, NC_000023.10:g.131212740G>A, NG_012347.1:g.54311C>T, NM_194277.3:c.1305C>T, NM_194277.2:c.1305C>T, NM_001306193.2:c.1260C>T, NM_001306193.1:c.1260C>T, XM_017029947.3:c.1257C>T, XM_017029947.2:c.1257C>T, XM_017029947.1:c.1257C>T, XM_017029949.3:c.831C>T, XM_017029949.2:c.831C>T, XM_017029949.1:c.831C>T, XM_017029948.3:c.1050C>T, XM_017029948.2:c.1050C>T, XM_017029948.1:c.1050C>T

Select item 147843451310.

rs1478434513 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:132085627 (GRCh38)
X:131219655 (GRCh37)
Canonical SPDI:: NC_000023.11:132085626:A:G
Gene:: FRMD7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.132085627A>G, NC_000023.10:g.131219655A>G, NG_012347.1:g.47396T>C, NM_194277.3:c.599T>C, NM_194277.2:c.599T>C, NM_001306193.2:c.554T>C, NM_001306193.1:c.554T>C, XM_017029947.3:c.551T>C, XM_017029947.2:c.551T>C, XM_017029947.1:c.551T>C, XM_017029949.3:c.125T>C, XM_017029949.2:c.125T>C, XM_017029949.1:c.125T>C, XM_017029948.3:c.344T>C, XM_017029948.2:c.344T>C, XM_017029948.1:c.344T>C, NP_919253.1:p.Met200Thr, NP_001293122.1:p.Met185Thr, XP_016885436.1:p.Met184Thr, XP_016885438.1:p.Met42Thr, XP_016885437.1:p.Met115Thr

Select item 147601379911.

rs1476013799 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: X:132094135 (GRCh38)
X:131228163 (GRCh37)
Canonical SPDI:: NC_000023.11:132094134:G:C,NC_000023.11:132094134:G:T
Gene:: FRMD7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.132094135G>C, NC_000023.11:g.132094135G>T, NC_000023.10:g.131228163G>C, NC_000023.10:g.131228163G>T, NG_012347.1:g.38888C>G, NG_012347.1:g.38888C>A, NM_194277.3:c.289C>G, NM_194277.3:c.289C>A, NM_194277.2:c.289C>G, NM_194277.2:c.289C>A, NM_001306193.2:c.244C>G, NM_001306193.2:c.244C>A, NM_001306193.1:c.244C>G, NM_001306193.1:c.244C>A, XM_017029947.3:c.241C>G, XM_017029947.3:c.241C>A, XM_017029947.2:c.241C>G, XM_017029947.2:c.241C>A, XM_017029947.1:c.241C>G, XM_017029947.1:c.241C>A, XM_017029949.3:c.-183C>G, XM_017029949.3:c.-183C>A, XM_017029949.2:c.-183C>G, XM_017029949.2:c.-183C>A, XM_017029949.1:c.-183C>G, XM_017029949.1:c.-183C>A, XM_017029948.3:c.34C>G, XM_017029948.3:c.34C>A, XM_017029948.2:c.34C>G, XM_017029948.2:c.34C>A, XM_017029948.1:c.34C>G, XM_017029948.1:c.34C>A, NP_919253.1:p.Leu97Val, NP_919253.1:p.Leu97Ile, NP_001293122.1:p.Leu82Val, NP_001293122.1:p.Leu82Ile, XP_016885436.1:p.Leu81Val, XP_016885436.1:p.Leu81Ile, XP_016885437.1:p.Leu12Val, XP_016885437.1:p.Leu12Ile

Select item 147214678612.

rs1472146786 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:132084572 (GRCh38)
X:131218600 (GRCh37)
Canonical SPDI:: NC_000023.11:132084571:A:G
Gene:: FRMD7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.132084572A>G, NC_000023.10:g.131218600A>G, NG_012347.1:g.48451T>C, NM_194277.3:c.659T>C, NM_194277.2:c.659T>C, NM_001306193.2:c.614T>C, NM_001306193.1:c.614T>C, XM_017029947.3:c.611T>C, XM_017029947.2:c.611T>C, XM_017029947.1:c.611T>C, XM_017029949.3:c.185T>C, XM_017029949.2:c.185T>C, XM_017029949.1:c.185T>C, XM_017029948.3:c.404T>C, XM_017029948.2:c.404T>C, XM_017029948.1:c.404T>C, NP_919253.1:p.Ile220Thr, NP_001293122.1:p.Ile205Thr, XP_016885436.1:p.Ile204Thr, XP_016885438.1:p.Ile62Thr, XP_016885437.1:p.Ile135Thr

Select item 146942360013.

rs1469423600 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:132078586 (GRCh38)
X:131212614 (GRCh37)
Canonical SPDI:: NC_000023.11:132078585:A:G
Gene:: FRMD7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.132078586A>G, NC_000023.10:g.131212614A>G, NG_012347.1:g.54437T>C, NM_194277.3:c.1431T>C, NM_194277.2:c.1431T>C, NM_001306193.2:c.1386T>C, NM_001306193.1:c.1386T>C, XM_017029947.3:c.1383T>C, XM_017029947.2:c.1383T>C, XM_017029947.1:c.1383T>C, XM_017029949.3:c.957T>C, XM_017029949.2:c.957T>C, XM_017029949.1:c.957T>C, XM_017029948.3:c.1176T>C, XM_017029948.2:c.1176T>C, XM_017029948.1:c.1176T>C

Select item 146892681514.

rs1468926815 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:132078145 (GRCh38)
X:131212173 (GRCh37)
Canonical SPDI:: NC_000023.11:132078144:C:T
Gene:: FRMD7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.00001/1 (GnomAD)
T=0.000034/9 (TOPMED)
T=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.132078145C>T, NC_000023.10:g.131212173C>T, NG_012347.1:g.54878G>A, NM_194277.3:c.1872G>A, NM_194277.2:c.1872G>A, NM_001306193.2:c.1827G>A, NM_001306193.1:c.1827G>A, XM_017029947.3:c.1824G>A, XM_017029947.2:c.1824G>A, XM_017029947.1:c.1824G>A, XM_017029949.3:c.1398G>A, XM_017029949.2:c.1398G>A, XM_017029949.1:c.1398G>A, XM_017029948.3:c.1617G>A, XM_017029948.2:c.1617G>A, XM_017029948.1:c.1617G>A

Select item 146659912415.

rs1466599124 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:132078735 (GRCh38)
X:131212763 (GRCh37)
Canonical SPDI:: NC_000023.11:132078734:T:C
Gene:: FRMD7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.132078735T>C, NC_000023.10:g.131212763T>C, NG_012347.1:g.54288A>G, NM_194277.3:c.1282A>G, NM_194277.2:c.1282A>G, NM_001306193.2:c.1237A>G, NM_001306193.1:c.1237A>G, XM_017029947.3:c.1234A>G, XM_017029947.2:c.1234A>G, XM_017029947.1:c.1234A>G, XM_017029949.3:c.808A>G, XM_017029949.2:c.808A>G, XM_017029949.1:c.808A>G, XM_017029948.3:c.1027A>G, XM_017029948.2:c.1027A>G, XM_017029948.1:c.1027A>G, NP_919253.1:p.Asn428Asp, NP_001293122.1:p.Asn413Asp, XP_016885436.1:p.Asn412Asp, XP_016885438.1:p.Asn270Asp, XP_016885437.1:p.Asn343Asp

Select item 146585249516.

rs1465852495 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:132078469 (GRCh38)
X:131212497 (GRCh37)
Canonical SPDI:: NC_000023.11:132078468:C:T
Gene:: FRMD7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.132078469C>T, NC_000023.10:g.131212497C>T, NG_012347.1:g.54554G>A, NM_194277.3:c.1548G>A, NM_194277.2:c.1548G>A, NM_001306193.2:c.1503G>A, NM_001306193.1:c.1503G>A, XM_017029947.3:c.1500G>A, XM_017029947.2:c.1500G>A, XM_017029947.1:c.1500G>A, XM_017029949.3:c.1074G>A, XM_017029949.2:c.1074G>A, XM_017029949.1:c.1074G>A, XM_017029948.3:c.1293G>A, XM_017029948.2:c.1293G>A, XM_017029948.1:c.1293G>A

Select item 146533151617.

rs1465331516 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:132094064 (GRCh38)
X:131228092 (GRCh37)
Canonical SPDI:: NC_000023.11:132094063:C:T
Gene:: FRMD7 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.132094064C>T, NC_000023.10:g.131228092C>T, NG_012347.1:g.38959G>A, NM_194277.3:c.360G>A, NM_194277.2:c.360G>A, NM_001306193.2:c.315G>A, NM_001306193.1:c.315G>A, XM_017029947.3:c.312G>A, XM_017029947.2:c.312G>A, XM_017029947.1:c.312G>A, XM_017029949.3:c.-112G>A, XM_017029949.2:c.-112G>A, XM_017029949.1:c.-112G>A, XM_017029948.3:c.105G>A, XM_017029948.2:c.105G>A, XM_017029948.1:c.105G>A

Select item 146314959718.

rs1463149597 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:132082406 (GRCh38)
X:131216434 (GRCh37)
Canonical SPDI:: NC_000023.11:132082405:G:T
Gene:: FRMD7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/2 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.132082406G>T, NC_000023.10:g.131216434G>T, NG_012347.1:g.50617C>A, NM_194277.3:c.862C>A, NM_194277.2:c.862C>A, NM_001306193.2:c.817C>A, NM_001306193.1:c.817C>A, XM_017029947.3:c.814C>A, XM_017029947.2:c.814C>A, XM_017029947.1:c.814C>A, XM_017029949.3:c.388C>A, XM_017029949.2:c.388C>A, XM_017029949.1:c.388C>A, XM_017029948.3:c.607C>A, XM_017029948.2:c.607C>A, XM_017029948.1:c.607C>A, NP_919253.1:p.Pro288Thr, NP_001293122.1:p.Pro273Thr, XP_016885436.1:p.Pro272Thr, XP_016885438.1:p.Pro130Thr, XP_016885437.1:p.Pro203Thr

Select item 146264896919.

rs1462648969 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:132085945 (GRCh38)
X:131219973 (GRCh37)
Canonical SPDI:: NC_000023.11:132085944:T:C
Gene:: FRMD7 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.132085945T>C, NC_000023.10:g.131219973T>C, NG_012347.1:g.47078A>G, NM_194277.3:c.472A>G, NM_194277.2:c.472A>G, NM_001306193.2:c.427A>G, NM_001306193.1:c.427A>G, XM_017029947.3:c.424A>G, XM_017029947.2:c.424A>G, XM_017029947.1:c.424A>G, XM_017029949.3:c.-3A>G, XM_017029949.2:c.-3A>G, XM_017029949.1:c.-3A>G, XM_017029948.3:c.217A>G, XM_017029948.2:c.217A>G, XM_017029948.1:c.217A>G, NP_919253.1:p.Ile158Val, NP_001293122.1:p.Ile143Val, XP_016885436.1:p.Ile142Val, XP_016885437.1:p.Ile73Val

Select item 146035670320.

rs1460356703 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:132080229 (GRCh38)
X:131214257 (GRCh37)
Canonical SPDI:: NC_000023.11:132080228:T:C
Gene:: FRMD7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.132080229T>C, NC_000023.10:g.131214257T>C, NG_012347.1:g.52794A>G, NM_194277.3:c.943A>G, NM_194277.2:c.943A>G, NM_001306193.2:c.898A>G, NM_001306193.1:c.898A>G, XM_017029947.3:c.895A>G, XM_017029947.2:c.895A>G, XM_017029947.1:c.895A>G, XM_017029949.3:c.469A>G, XM_017029949.2:c.469A>G, XM_017029949.1:c.469A>G, XM_017029948.3:c.688A>G, XM_017029948.2:c.688A>G, XM_017029948.1:c.688A>G, NP_919253.1:p.Lys315Glu, NP_001293122.1:p.Lys300Glu, XP_016885436.1:p.Lys299Glu, XP_016885438.1:p.Lys157Glu, XP_016885437.1:p.Lys230Glu

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