SNP Links for Protein (Select 213021188) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:9691586 (GRCh38)
X:9659626 (GRCh37)
Canonical SPDI:: NC_000023.11:9691585:C:T
Gene:: TBL1X (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.00001/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.9691586C>T, NC_000023.10:g.9659626C>T, NG_053005.1:g.233292C>T, NM_005647.4:c.624C>T, NM_005647.3:c.624C>T, NM_001139466.1:c.624C>T, NM_001139468.1:c.471C>T, NM_001139467.1:c.471C>T

Select item 145822633912.

rs1458226339 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:9716228 (GRCh38)
X:9684268 (GRCh37)
Canonical SPDI:: NC_000023.11:9716227:T:G
Gene:: TBL1X (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.9716228T>G, NC_000023.10:g.9684268T>G, NG_053005.1:g.257934T>G, NM_005647.4:c.1716T>G, NM_005647.3:c.1716T>G, NM_001139466.1:c.1716T>G, NM_001139468.1:c.1563T>G, NM_001139467.1:c.1563T>G

Select item 144935662313.

rs1449356623 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:9715002 (GRCh38)
X:9683042 (GRCh37)
Canonical SPDI:: NC_000023.11:9715001:C:G
Gene:: TBL1X (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.9715002C>G, NC_000023.10:g.9683042C>G, NG_053005.1:g.256708C>G, NM_005647.4:c.1706C>G, NM_005647.3:c.1706C>G, NM_001139466.1:c.1706C>G, NM_001139468.1:c.1553C>G, NM_001139467.1:c.1553C>G, NP_005638.1:p.Ser569Cys, NP_001132938.1:p.Ser569Cys, NP_001132940.1:p.Ser518Cys, NP_001132939.1:p.Ser518Cys

Select item 144424585314.

rs1444245853 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTTTTTTT [Show Flanks]
Chromosome:: X:9709658 (GRCh38)
X:9677699 (GRCh37)
Canonical SPDI:: NC_000023.11:9709658::TTTTTTTTT
Gene:: TBL1X (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
Validated:: by cluster
HGVS:: NC_000023.11:g.9709658_9709659insTTTTTTTTT, NC_000023.10:g.9677698_9677699insTTTTTTTTT, NG_053005.1:g.251364_251365insTTTTTTTTT, NM_005647.4:c.1337_1338insTTTTTTTTT, NM_005647.3:c.1337_1338insTTTTTTTTT, NM_001139466.1:c.1337_1338insTTTTTTTTT, NM_001139468.1:c.1184_1185insTTTTTTTTT, NM_001139467.1:c.1184_1185insTTTTTTTTT, NP_005638.1:p.Ile447_His448insPhePhePhe, NP_001132938.1:p.Ile447_His448insPhePhePhe, NP_001132940.1:p.Ile396_His397insPhePhePhe, NP_001132939.1:p.Ile396_His397insPhePhePhe

Select item 144047525015.

rs1440475250 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:9693212 (GRCh38)
X:9661252 (GRCh37)
Canonical SPDI:: NC_000023.11:9693211:G:A
Gene:: TBL1X (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.9693212G>A, NC_000023.10:g.9661252G>A, NG_053005.1:g.234918G>A, NM_005647.4:c.955G>A, NM_005647.3:c.955G>A, NM_001139466.1:c.955G>A, NM_001139468.1:c.802G>A, NM_001139467.1:c.802G>A, NP_005638.1:p.Gly319Ser, NP_001132938.1:p.Gly319Ser, NP_001132940.1:p.Gly268Ser, NP_001132939.1:p.Gly268Ser

Select item 143903337316.

rs1439033373 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:9691615 (GRCh38)
X:9659655 (GRCh37)
Canonical SPDI:: NC_000023.11:9691614:T:C
Gene:: TBL1X (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.9691615T>C, NC_000023.10:g.9659655T>C, NG_053005.1:g.233321T>C, NM_005647.4:c.653T>C, NM_005647.3:c.653T>C, NM_001139466.1:c.653T>C, NM_001139468.1:c.500T>C, NM_001139467.1:c.500T>C, NP_005638.1:p.Val218Ala, NP_001132938.1:p.Val218Ala, NP_001132940.1:p.Val167Ala, NP_001132939.1:p.Val167Ala

Select item 143718633917.

rs1437186339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: X:9709298 (GRCh38)
X:9677338 (GRCh37)
Canonical SPDI:: NC_000023.11:9709297:C:A,NC_000023.11:9709297:C:G
Gene:: TBL1X (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000005/1 (GnomAD_exomes)
A=0.00009/1 (TOMMO)
HGVS:: NC_000023.11:g.9709298C>A, NC_000023.11:g.9709298C>G, NC_000023.10:g.9677338C>A, NC_000023.10:g.9677338C>G, NG_053005.1:g.251004C>A, NG_053005.1:g.251004C>G, NM_005647.4:c.1287C>A, NM_005647.4:c.1287C>G, NM_005647.3:c.1287C>A, NM_005647.3:c.1287C>G, NM_001139466.1:c.1287C>A, NM_001139466.1:c.1287C>G, NM_001139468.1:c.1134C>A, NM_001139468.1:c.1134C>G, NM_001139467.1:c.1134C>A, NM_001139467.1:c.1134C>G

Select item 143115160818.

rs1431151608 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:9714919 (GRCh38)
X:9682959 (GRCh37)
Canonical SPDI:: NC_000023.11:9714918:C:T
Gene:: TBL1X (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000023.11:g.9714919C>T, NC_000023.10:g.9682959C>T, NG_053005.1:g.256625C>T, NM_005647.4:c.1623C>T, NM_005647.3:c.1623C>T, NM_001139466.1:c.1623C>T, NM_001139468.1:c.1470C>T, NM_001139467.1:c.1470C>T

Select item 143080419619.

rs1430804196 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:9692174 (GRCh38)
X:9660214 (GRCh37)
Canonical SPDI:: NC_000023.11:9692173:C:T
Gene:: TBL1X (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by cluster
MAF:: T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.9692174C>T, NC_000023.10:g.9660214C>T, NG_053005.1:g.233880C>T, NM_005647.4:c.811C>T, NM_005647.3:c.811C>T, NM_001139466.1:c.811C>T, NM_001139468.1:c.658C>T, NM_001139467.1:c.658C>T, NP_005638.1:p.Gln271Ter, NP_001132938.1:p.Gln271Ter, NP_001132940.1:p.Gln220Ter, NP_001132939.1:p.Gln220Ter

Select item 142333850520.

rs1423338505 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:9692180 (GRCh38)
X:9660220 (GRCh37)
Canonical SPDI:: NC_000023.11:9692179:G:A
Gene:: TBL1X (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000017/3 (GnomAD_exomes)
A=0.00009/1 (TOMMO)
HGVS:: NC_000023.11:g.9692180G>A, NC_000023.10:g.9660220G>A, NG_053005.1:g.233886G>A, NM_005647.4:c.817G>A, NM_005647.3:c.817G>A, NM_001139466.1:c.817G>A, NM_001139468.1:c.664G>A, NM_001139467.1:c.664G>A, NP_005638.1:p.Val273Met, NP_001132938.1:p.Val273Met, NP_001132940.1:p.Val222Met, NP_001132939.1:p.Val222Met

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