SNP Links for Protein (Select 754502064) - SNP

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Links from Protein

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Select item 14862799321.

rs1486279932 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAAA [Show Flanks]
Chromosome:: 10:87961004 (GRCh38)
10:89720762 (GRCh37)
Canonical SPDI:: NC_000010.11:87961004:A:AAAAA
Gene:: PTEN (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000010.11:g.87961005_87961006insAAAA, NC_000010.10:g.89720762_89720763insAAAA, NG_007466.2:g.102567_102568insAAAA, NM_000314.8:c.913_914insAAAA, NM_000314.7:c.913_914insAAAA, NM_000314.6:c.913_914insAAAA, NM_000314.5:c.913_914insAAAA, NM_000314.4:c.913_914insAAAA, NM_001304717.5:c.1432_1433insAAAA, NM_001304717.4:c.1432_1433insAAAA, NM_001304717.3:c.1432_1433insAAAA, NM_001304717.2:c.1432_1433insAAAA, NM_001304717.1:c.1432_1433insAAAA, NM_001304718.2:c.322_323insAAAA, NM_001304718.1:c.322_323insAAAA, NW_013171807.1:g.176794_176795insAAAA, NP_000305.3:p.Ser305fs, NP_001291646.4:p.Ser478fs, NP_001291647.1:p.Ser108fs

Select item 14743546672.

rs1474354667 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 10:87960930 (GRCh38)
10:89720687 (GRCh37)
Canonical SPDI:: NC_000010.11:87960929:A:C,NC_000010.11:87960929:A:G,NC_000010.11:87960929:A:T
Gene:: PTEN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: likely-benign,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.87960930A>C, NC_000010.11:g.87960930A>G, NC_000010.11:g.87960930A>T, NC_000010.10:g.89720687A>C, NC_000010.10:g.89720687A>G, NC_000010.10:g.89720687A>T, NG_007466.2:g.102492A>C, NG_007466.2:g.102492A>G, NG_007466.2:g.102492A>T, NM_000314.8:c.838A>C, NM_000314.8:c.838A>G, NM_000314.8:c.838A>T, NM_000314.7:c.838A>C, NM_000314.7:c.838A>G, NM_000314.7:c.838A>T, NM_000314.6:c.838A>C, NM_000314.6:c.838A>G, NM_000314.6:c.838A>T, NM_000314.5:c.838A>C, NM_000314.5:c.838A>G, NM_000314.5:c.838A>T, NM_000314.4:c.838A>C, NM_000314.4:c.838A>G, NM_000314.4:c.838A>T, NM_001304717.5:c.1357A>C, NM_001304717.5:c.1357A>G, NM_001304717.5:c.1357A>T, NM_001304717.4:c.1357A>C, NM_001304717.4:c.1357A>G, NM_001304717.4:c.1357A>T, NM_001304717.3:c.1357A>C, NM_001304717.3:c.1357A>G, NM_001304717.3:c.1357A>T, NM_001304717.2:c.1357A>C, NM_001304717.2:c.1357A>G, NM_001304717.2:c.1357A>T, NM_001304717.1:c.1357A>C, NM_001304717.1:c.1357A>G, NM_001304717.1:c.1357A>T, NM_001304718.2:c.247A>C, NM_001304718.2:c.247A>G, NM_001304718.2:c.247A>T, NM_001304718.1:c.247A>C, NM_001304718.1:c.247A>G, NM_001304718.1:c.247A>T, NW_013171807.1:g.176719A>C, NW_013171807.1:g.176719A>G, NW_013171807.1:g.176719A>T, NP_000305.3:p.Ile280Leu, NP_000305.3:p.Ile280Val, NP_000305.3:p.Ile280Leu, NP_001291646.4:p.Ile453Leu, NP_001291646.4:p.Ile453Val, NP_001291646.4:p.Ile453Leu, NP_001291647.1:p.Ile83Leu, NP_001291647.1:p.Ile83Val, NP_001291647.1:p.Ile83Leu

Select item 14720284963.

rs1472028496 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:87965341 (GRCh38)
10:89725098 (GRCh37)
Canonical SPDI:: NC_000010.11:87965340:A:C
Gene:: PTEN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.87965341A>C, NC_000010.10:g.89725098A>C, NG_007466.2:g.106903A>C, NM_000314.8:c.1081A>C, NM_000314.7:c.1081A>C, NM_000314.6:c.1081A>C, NM_000314.5:c.1081A>C, NM_000314.4:c.1081A>C, NM_001304717.5:c.1600A>C, NM_001304717.4:c.1600A>C, NM_001304717.3:c.1600A>C, NM_001304717.2:c.1600A>C, NM_001304717.1:c.1600A>C, NM_001304718.2:c.490A>C, NM_001304718.1:c.490A>C, NW_013171807.1:g.181130A>C, NP_000305.3:p.Ser361Arg, NP_001291646.4:p.Ser534Arg, NP_001291647.1:p.Ser164Arg

Select item 14697350674.

rs1469735067 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTT [Show Flanks]
Chromosome:: 10:87960895 (GRCh38)
10:89720653 (GRCh37)
Canonical SPDI:: NC_000010.11:87960895::TTTT
Gene:: PTEN (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000010.11:g.87960895_87960896insTTTT, NC_000010.10:g.89720652_89720653insTTTT, NG_007466.2:g.102457_102458insTTTT, NM_000314.8:c.803_804insTTTT, NM_000314.7:c.803_804insTTTT, NM_000314.6:c.803_804insTTTT, NM_000314.5:c.803_804insTTTT, NM_000314.4:c.803_804insTTTT, NM_001304717.5:c.1322_1323insTTTT, NM_001304717.4:c.1322_1323insTTTT, NM_001304717.3:c.1322_1323insTTTT, NM_001304717.2:c.1322_1323insTTTT, NM_001304717.1:c.1322_1323insTTTT, NM_001304718.2:c.212_213insTTTT, NM_001304718.1:c.212_213insTTTT, NW_013171807.1:g.176684_176685insTTTT, NP_000305.3:p.Lys269fs, NP_001291646.4:p.Lys442fs, NP_001291647.1:p.Lys72fs

Select item 14555518405.

rs1455551840 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 10:87961032 (GRCh38)
10:89720789 (GRCh37)
Canonical SPDI:: NC_000010.11:87961031:G:A,NC_000010.11:87961031:G:C,NC_000010.11:87961031:G:T
Gene:: PTEN (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,missense_variant
Clinical significance:: pathogenic
Validated:: by cluster
HGVS:: NC_000010.11:g.87961032G>A, NC_000010.11:g.87961032G>C, NC_000010.11:g.87961032G>T, NC_000010.10:g.89720789G>A, NC_000010.10:g.89720789G>C, NC_000010.10:g.89720789G>T, NG_007466.2:g.102594G>A, NG_007466.2:g.102594G>C, NG_007466.2:g.102594G>T, NM_000314.8:c.940G>A, NM_000314.8:c.940G>C, NM_000314.8:c.940G>T, NM_000314.7:c.940G>A, NM_000314.7:c.940G>C, NM_000314.7:c.940G>T, NM_000314.6:c.940G>A, NM_000314.6:c.940G>C, NM_000314.6:c.940G>T, NM_000314.5:c.940G>A, NM_000314.5:c.940G>C, NM_000314.5:c.940G>T, NM_000314.4:c.940G>A, NM_000314.4:c.940G>C, NM_000314.4:c.940G>T, NM_001304717.5:c.1459G>A, NM_001304717.5:c.1459G>C, NM_001304717.5:c.1459G>T, NM_001304717.4:c.1459G>A, NM_001304717.4:c.1459G>C, NM_001304717.4:c.1459G>T, NM_001304717.3:c.1459G>A, NM_001304717.3:c.1459G>C, NM_001304717.3:c.1459G>T, NM_001304717.2:c.1459G>A, NM_001304717.2:c.1459G>C, NM_001304717.2:c.1459G>T, NM_001304717.1:c.1459G>A, NM_001304717.1:c.1459G>C, NM_001304717.1:c.1459G>T, NM_001304718.2:c.349G>A, NM_001304718.2:c.349G>C, NM_001304718.2:c.349G>T, NM_001304718.1:c.349G>A, NM_001304718.1:c.349G>C, NM_001304718.1:c.349G>T, NW_013171807.1:g.176821G>A, NW_013171807.1:g.176821G>C, NW_013171807.1:g.176821G>T, NP_000305.3:p.Glu314Lys, NP_000305.3:p.Glu314Gln, NP_000305.3:p.Glu314Ter, NP_001291646.4:p.Glu487Lys, NP_001291646.4:p.Glu487Gln, NP_001291646.4:p.Glu487Ter, NP_001291647.1:p.Glu117Lys, NP_001291647.1:p.Glu117Gln, NP_001291647.1:p.Glu117Ter

Select item 14341914236.

rs1434191423 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 10:87952220 (GRCh38)
10:89711977 (GRCh37)
Canonical SPDI:: NC_000010.11:87952219:A:G,NC_000010.11:87952219:A:T
Gene:: PTEN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.87952220A>G, NC_000010.11:g.87952220A>T, NC_000010.10:g.89711977A>G, NC_000010.10:g.89711977A>T, NG_007466.2:g.93782A>G, NG_007466.2:g.93782A>T, NM_000314.8:c.595A>G, NM_000314.8:c.595A>T, NM_000314.7:c.595A>G, NM_000314.7:c.595A>T, NM_000314.6:c.595A>G, NM_000314.6:c.595A>T, NM_000314.5:c.595A>G, NM_000314.5:c.595A>T, NM_000314.4:c.595A>G, NM_000314.4:c.595A>T, NM_001304717.5:c.1114A>G, NM_001304717.5:c.1114A>T, NM_001304717.4:c.1114A>G, NM_001304717.4:c.1114A>T, NM_001304717.3:c.1114A>G, NM_001304717.3:c.1114A>T, NM_001304717.2:c.1114A>G, NM_001304717.2:c.1114A>T, NM_001304717.1:c.1114A>G, NM_001304717.1:c.1114A>T, NM_001304718.2:c.4A>G, NM_001304718.2:c.4A>T, NM_001304718.1:c.4A>G, NM_001304718.1:c.4A>T, NW_013171807.1:g.168009A>G, NW_013171807.1:g.168009A>T, NP_000305.3:p.Met199Val, NP_000305.3:p.Met199Leu, NP_001291646.4:p.Met372Val, NP_001291646.4:p.Met372Leu, NP_001291647.1:p.Met2Val, NP_001291647.1:p.Met2Leu

Select item 14256632927.

rs1425663292 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 10:87957950 (GRCh38)
10:89717707 (GRCh37)
Canonical SPDI:: NC_000010.11:87957949:T:A,NC_000010.11:87957949:T:C
Gene:: PTEN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.87957950T>A, NC_000010.11:g.87957950T>C, NC_000010.10:g.89717707T>A, NC_000010.10:g.89717707T>C, NG_007466.2:g.99512T>A, NG_007466.2:g.99512T>C, NM_000314.8:c.732T>A, NM_000314.8:c.732T>C, NM_000314.7:c.732T>A, NM_000314.7:c.732T>C, NM_000314.6:c.732T>A, NM_000314.6:c.732T>C, NM_000314.5:c.732T>A, NM_000314.5:c.732T>C, NM_000314.4:c.732T>A, NM_000314.4:c.732T>C, NM_001304717.5:c.1251T>A, NM_001304717.5:c.1251T>C, NM_001304717.4:c.1251T>A, NM_001304717.4:c.1251T>C, NM_001304717.3:c.1251T>A, NM_001304717.3:c.1251T>C, NM_001304717.2:c.1251T>A, NM_001304717.2:c.1251T>C, NM_001304717.1:c.1251T>A, NM_001304717.1:c.1251T>C, NM_001304718.2:c.141T>A, NM_001304718.2:c.141T>C, NM_001304718.1:c.141T>A, NM_001304718.1:c.141T>C, NW_013171807.1:g.173739T>A, NW_013171807.1:g.173739T>C

Select item 14101985448.

rs1410198544 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:87960915 (GRCh38)
10:89720672 (GRCh37)
Canonical SPDI:: NC_000010.11:87960914:G:A
Gene:: PTEN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.87960915G>A, NC_000010.10:g.89720672G>A, NG_007466.2:g.102477G>A, NM_000314.8:c.823G>A, NM_000314.7:c.823G>A, NM_000314.6:c.823G>A, NM_000314.5:c.823G>A, NM_000314.4:c.823G>A, NM_001304717.5:c.1342G>A, NM_001304717.4:c.1342G>A, NM_001304717.3:c.1342G>A, NM_001304717.2:c.1342G>A, NM_001304717.1:c.1342G>A, NM_001304718.2:c.232G>A, NM_001304718.1:c.232G>A, NW_013171807.1:g.176704G>A, NP_000305.3:p.Val275Ile, NP_001291646.4:p.Val448Ile, NP_001291647.1:p.Val78Ile

Select item 13938323389.

rs1393832338 has merged into rs587782341 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 10:87957958 (GRCh38)
10:89717716 (GRCh37)
Canonical SPDI:: NC_000010.11:87957958:A:AA
Gene:: PTEN (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.87957959dup, NC_000010.10:g.89717716dup, NG_007466.2:g.99521dup, NM_000314.8:c.741dup, NM_000314.7:c.741dup, NM_000314.6:c.741dup, NM_000314.5:c.741dup, NM_000314.4:c.741dup, NM_001304717.5:c.1260dup, NM_001304717.4:c.1260dup, NM_001304717.3:c.1260dup, NM_001304717.2:c.1260dup, NM_001304717.1:c.1260dup, NM_001304718.2:c.150dup, NM_001304718.1:c.150dup, NW_013171807.1:g.173748dup, NP_000305.3:p.Pro248fs, NP_001291646.4:p.Pro421fs, NP_001291647.1:p.Pro51fs

Select item 139355005910.

rs1393550059 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:87965289 (GRCh38)
10:89725046 (GRCh37)
Canonical SPDI:: NC_000010.11:87965288:G:A
Gene:: PTEN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.87965289G>A, NC_000010.10:g.89725046G>A, NG_007466.2:g.106851G>A, NM_000314.8:c.1029G>A, NM_000314.7:c.1029G>A, NM_000314.6:c.1029G>A, NM_000314.5:c.1029G>A, NM_000314.4:c.1029G>A, NM_001304717.5:c.1548G>A, NM_001304717.4:c.1548G>A, NM_001304717.3:c.1548G>A, NM_001304717.2:c.1548G>A, NM_001304717.1:c.1548G>A, NM_001304718.2:c.438G>A, NM_001304718.1:c.438G>A, NW_013171807.1:g.181078G>A

Select item 137378234311.

rs1373782343 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 10:87961062 (GRCh38)
10:89720819 (GRCh37)
Canonical SPDI:: NC_000010.11:87961061:G:A,NC_000010.11:87961061:G:C,NC_000010.11:87961061:G:T
Gene:: PTEN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.87961062G>A, NC_000010.11:g.87961062G>C, NC_000010.11:g.87961062G>T, NC_000010.10:g.89720819G>A, NC_000010.10:g.89720819G>C, NC_000010.10:g.89720819G>T, NG_007466.2:g.102624G>A, NG_007466.2:g.102624G>C, NG_007466.2:g.102624G>T, NM_000314.8:c.970G>A, NM_000314.8:c.970G>C, NM_000314.8:c.970G>T, NM_000314.7:c.970G>A, NM_000314.7:c.970G>C, NM_000314.7:c.970G>T, NM_000314.6:c.970G>A, NM_000314.6:c.970G>C, NM_000314.6:c.970G>T, NM_000314.5:c.970G>A, NM_000314.5:c.970G>C, NM_000314.5:c.970G>T, NM_000314.4:c.970G>A, NM_000314.4:c.970G>C, NM_000314.4:c.970G>T, NM_001304717.5:c.1489G>A, NM_001304717.5:c.1489G>C, NM_001304717.5:c.1489G>T, NM_001304717.4:c.1489G>A, NM_001304717.4:c.1489G>C, NM_001304717.4:c.1489G>T, NM_001304717.3:c.1489G>A, NM_001304717.3:c.1489G>C, NM_001304717.3:c.1489G>T, NM_001304717.2:c.1489G>A, NM_001304717.2:c.1489G>C, NM_001304717.2:c.1489G>T, NM_001304717.1:c.1489G>A, NM_001304717.1:c.1489G>C, NM_001304717.1:c.1489G>T, NM_001304718.2:c.379G>A, NM_001304718.2:c.379G>C, NM_001304718.2:c.379G>T, NM_001304718.1:c.379G>A, NM_001304718.1:c.379G>C, NM_001304718.1:c.379G>T, NW_013171807.1:g.176851G>A, NW_013171807.1:g.176851G>C, NW_013171807.1:g.176851G>T, NP_000305.3:p.Asp324Asn, NP_000305.3:p.Asp324His, NP_000305.3:p.Asp324Tyr, NP_001291646.4:p.Asp497Asn, NP_001291646.4:p.Asp497His, NP_001291646.4:p.Asp497Tyr, NP_001291647.1:p.Asp127Asn, NP_001291647.1:p.Asp127His, NP_001291647.1:p.Asp127Tyr

Select item 137034905712.

rs1370349057 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:87965375 (GRCh38)
10:89725132 (GRCh37)
Canonical SPDI:: NC_000010.11:87965374:A:G
Gene:: PTEN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.87965375A>G, NC_000010.10:g.89725132A>G, NG_007466.2:g.106937A>G, NM_000314.8:c.1115A>G, NM_000314.7:c.1115A>G, NM_000314.6:c.1115A>G, NM_000314.5:c.1115A>G, NM_000314.4:c.1115A>G, NM_001304717.5:c.1634A>G, NM_001304717.4:c.1634A>G, NM_001304717.3:c.1634A>G, NM_001304717.2:c.1634A>G, NM_001304717.1:c.1634A>G, NM_001304718.2:c.524A>G, NM_001304718.1:c.524A>G, NW_013171807.1:g.181164A>G, NP_000305.3:p.Asn372Ser, NP_001291646.4:p.Asn545Ser, NP_001291647.1:p.Asn175Ser

Select item 135557629813.

rs1355576298 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:87965352 (GRCh38)
10:89725109 (GRCh37)
Canonical SPDI:: NC_000010.11:87965351:T:C,NC_000010.11:87965351:T:G
Gene:: PTEN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.87965352T>C, NC_000010.11:g.87965352T>G, NC_000010.10:g.89725109T>C, NC_000010.10:g.89725109T>G, NG_007466.2:g.106914T>C, NG_007466.2:g.106914T>G, NM_000314.8:c.1092T>C, NM_000314.8:c.1092T>G, NM_000314.7:c.1092T>C, NM_000314.7:c.1092T>G, NM_000314.6:c.1092T>C, NM_000314.6:c.1092T>G, NM_000314.5:c.1092T>C, NM_000314.5:c.1092T>G, NM_000314.4:c.1092T>C, NM_000314.4:c.1092T>G, NM_001304717.5:c.1611T>C, NM_001304717.5:c.1611T>G, NM_001304717.4:c.1611T>C, NM_001304717.4:c.1611T>G, NM_001304717.3:c.1611T>C, NM_001304717.3:c.1611T>G, NM_001304717.2:c.1611T>C, NM_001304717.2:c.1611T>G, NM_001304717.1:c.1611T>C, NM_001304717.1:c.1611T>G, NM_001304718.2:c.501T>C, NM_001304718.2:c.501T>G, NM_001304718.1:c.501T>C, NM_001304718.1:c.501T>G, NW_013171807.1:g.181141T>C, NW_013171807.1:g.181141T>G

Select item 135258544214.

rs1352585442 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 10:87957878 (GRCh38)
10:89717635 (GRCh37)
Canonical SPDI:: NC_000010.11:87957877:A:C,NC_000010.11:87957877:A:G,NC_000010.11:87957877:A:T
Gene:: PTEN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.87957878A>C, NC_000010.11:g.87957878A>G, NC_000010.11:g.87957878A>T, NC_000010.10:g.89717635A>C, NC_000010.10:g.89717635A>G, NC_000010.10:g.89717635A>T, NG_007466.2:g.99440A>C, NG_007466.2:g.99440A>G, NG_007466.2:g.99440A>T, NM_000314.8:c.660A>C, NM_000314.8:c.660A>G, NM_000314.8:c.660A>T, NM_000314.7:c.660A>C, NM_000314.7:c.660A>G, NM_000314.7:c.660A>T, NM_000314.6:c.660A>C, NM_000314.6:c.660A>G, NM_000314.6:c.660A>T, NM_000314.5:c.660A>C, NM_000314.5:c.660A>G, NM_000314.5:c.660A>T, NM_000314.4:c.660A>C, NM_000314.4:c.660A>G, NM_000314.4:c.660A>T, NM_001304717.5:c.1179A>C, NM_001304717.5:c.1179A>G, NM_001304717.5:c.1179A>T, NM_001304717.4:c.1179A>C, NM_001304717.4:c.1179A>G, NM_001304717.4:c.1179A>T, NM_001304717.3:c.1179A>C, NM_001304717.3:c.1179A>G, NM_001304717.3:c.1179A>T, NM_001304717.2:c.1179A>C, NM_001304717.2:c.1179A>G, NM_001304717.2:c.1179A>T, NM_001304717.1:c.1179A>C, NM_001304717.1:c.1179A>G, NM_001304717.1:c.1179A>T, NM_001304718.2:c.69A>C, NM_001304718.2:c.69A>G, NM_001304718.2:c.69A>T, NM_001304718.1:c.69A>C, NM_001304718.1:c.69A>G, NM_001304718.1:c.69A>T, NW_013171807.1:g.173667A>C, NW_013171807.1:g.173667A>G, NW_013171807.1:g.173667A>T

Select item 134506363815.

rs1345063638 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 10:87965391 (GRCh38)
10:89725148 (GRCh37)
Canonical SPDI:: NC_000010.11:87965390:T:A,NC_000010.11:87965390:T:C
Gene:: PTEN (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.87965391T>A, NC_000010.11:g.87965391T>C, NC_000010.10:g.89725148T>A, NC_000010.10:g.89725148T>C, NG_007466.2:g.106953T>A, NG_007466.2:g.106953T>C, NM_000314.8:c.1131T>A, NM_000314.8:c.1131T>C, NM_000314.7:c.1131T>A, NM_000314.7:c.1131T>C, NM_000314.6:c.1131T>A, NM_000314.6:c.1131T>C, NM_000314.5:c.1131T>A, NM_000314.5:c.1131T>C, NM_000314.4:c.1131T>A, NM_000314.4:c.1131T>C, NM_001304717.5:c.1650T>A, NM_001304717.5:c.1650T>C, NM_001304717.4:c.1650T>A, NM_001304717.4:c.1650T>C, NM_001304717.3:c.1650T>A, NM_001304717.3:c.1650T>C, NM_001304717.2:c.1650T>A, NM_001304717.2:c.1650T>C, NM_001304717.1:c.1650T>A, NM_001304717.1:c.1650T>C, NM_001304718.2:c.540T>A, NM_001304718.2:c.540T>C, NM_001304718.1:c.540T>A, NM_001304718.1:c.540T>C, NW_013171807.1:g.181180T>A, NW_013171807.1:g.181180T>C, NP_000305.3:p.Tyr377Ter, NP_001291646.4:p.Tyr550Ter, NP_001291647.1:p.Tyr180Ter

Select item 133503390016.

rs1335033900 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:87958012 (GRCh38)
10:89717769 (GRCh37)
Canonical SPDI:: NC_000010.11:87958011:T:C,NC_000010.11:87958011:T:G
Gene:: PTEN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.87958012T>C, NC_000010.11:g.87958012T>G, NC_000010.10:g.89717769T>C, NC_000010.10:g.89717769T>G, NG_007466.2:g.99574T>C, NG_007466.2:g.99574T>G, NM_000314.8:c.794T>C, NM_000314.8:c.794T>G, NM_000314.7:c.794T>C, NM_000314.7:c.794T>G, NM_000314.6:c.794T>C, NM_000314.6:c.794T>G, NM_000314.5:c.794T>C, NM_000314.5:c.794T>G, NM_000314.4:c.794T>C, NM_000314.4:c.794T>G, NM_001304717.5:c.1313T>C, NM_001304717.5:c.1313T>G, NM_001304717.4:c.1313T>C, NM_001304717.4:c.1313T>G, NM_001304717.3:c.1313T>C, NM_001304717.3:c.1313T>G, NM_001304717.2:c.1313T>C, NM_001304717.2:c.1313T>G, NM_001304717.1:c.1313T>C, NM_001304717.1:c.1313T>G, NM_001304718.2:c.203T>C, NM_001304718.2:c.203T>G, NM_001304718.1:c.203T>C, NM_001304718.1:c.203T>G, NW_013171807.1:g.173801T>C, NW_013171807.1:g.173801T>G, NP_000305.3:p.Leu265Pro, NP_000305.3:p.Leu265Arg, NP_001291646.4:p.Leu438Pro, NP_001291646.4:p.Leu438Arg, NP_001291647.1:p.Leu68Pro, NP_001291647.1:p.Leu68Arg

Select item 133444441517.

rs1334444415 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 10:87960996 (GRCh38)
10:89720753 (GRCh37)
Canonical SPDI:: NC_000010.11:87960995:A:G,NC_000010.11:87960995:A:T
Gene:: PTEN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by cluster
HGVS:: NC_000010.11:g.87960996A>G, NC_000010.11:g.87960996A>T, NC_000010.10:g.89720753A>G, NC_000010.10:g.89720753A>T, NG_007466.2:g.102558A>G, NG_007466.2:g.102558A>T, NM_000314.8:c.904A>G, NM_000314.8:c.904A>T, NM_000314.7:c.904A>G, NM_000314.7:c.904A>T, NM_000314.6:c.904A>G, NM_000314.6:c.904A>T, NM_000314.5:c.904A>G, NM_000314.5:c.904A>T, NM_000314.4:c.904A>G, NM_000314.4:c.904A>T, NM_001304717.5:c.1423A>G, NM_001304717.5:c.1423A>T, NM_001304717.4:c.1423A>G, NM_001304717.4:c.1423A>T, NM_001304717.3:c.1423A>G, NM_001304717.3:c.1423A>T, NM_001304717.2:c.1423A>G, NM_001304717.2:c.1423A>T, NM_001304717.1:c.1423A>G, NM_001304717.1:c.1423A>T, NM_001304718.2:c.313A>G, NM_001304718.2:c.313A>T, NM_001304718.1:c.313A>G, NM_001304718.1:c.313A>T, NW_013171807.1:g.176785A>G, NW_013171807.1:g.176785A>T, NP_000305.3:p.Ser302Gly, NP_000305.3:p.Ser302Cys, NP_001291646.4:p.Ser475Gly, NP_001291646.4:p.Ser475Cys, NP_001291647.1:p.Ser105Gly, NP_001291647.1:p.Ser105Cys

Select item 132713414018.

rs1327134140 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 10:87961054 (GRCh38)
10:89720811 (GRCh37)
Canonical SPDI:: NC_000010.11:87961053:C:
Gene:: PTEN (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.87961054del, NC_000010.10:g.89720811del, NG_007466.2:g.102616del, NM_000314.8:c.962del, NM_000314.7:c.962del, NM_000314.6:c.962del, NM_000314.5:c.962del, NM_000314.4:c.962del, NM_001304717.5:c.1481del, NM_001304717.4:c.1481del, NM_001304717.3:c.1481del, NM_001304717.2:c.1481del, NM_001304717.1:c.1481del, NM_001304718.2:c.371del, NM_001304718.1:c.371del, NW_013171807.1:g.176843del, NP_000305.3:p.Thr321fs, NP_001291646.4:p.Thr494fs, NP_001291647.1:p.Thr124fs

Select item 132317612019.

rs1323176120 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:87960938 (GRCh38)
10:89720695 (GRCh37)
Canonical SPDI:: NC_000010.11:87960937:A:G
Gene:: PTEN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.87960938A>G, NC_000010.10:g.89720695A>G, NG_007466.2:g.102500A>G, NM_000314.8:c.846A>G, NM_000314.7:c.846A>G, NM_000314.6:c.846A>G, NM_000314.5:c.846A>G, NM_000314.4:c.846A>G, NM_001304717.5:c.1365A>G, NM_001304717.4:c.1365A>G, NM_001304717.3:c.1365A>G, NM_001304717.2:c.1365A>G, NM_001304717.1:c.1365A>G, NM_001304718.2:c.255A>G, NM_001304718.1:c.255A>G, NW_013171807.1:g.176727A>G

Select item 130306564920.

rs1303065649 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 10:87961097 (GRCh38)
10:89720854 (GRCh37)
Canonical SPDI:: NC_000010.11:87961096:A:G,NC_000010.11:87961096:A:T
Gene:: PTEN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign,conflicting-interpretations-of-pathogenicity,uncertain-significance
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.87961097A>G, NC_000010.11:g.87961097A>T, NC_000010.10:g.89720854A>G, NC_000010.10:g.89720854A>T, NG_007466.2:g.102659A>G, NG_007466.2:g.102659A>T, NM_000314.8:c.1005A>G, NM_000314.8:c.1005A>T, NM_000314.7:c.1005A>G, NM_000314.7:c.1005A>T, NM_000314.6:c.1005A>G, NM_000314.6:c.1005A>T, NM_000314.5:c.1005A>G, NM_000314.5:c.1005A>T, NM_000314.4:c.1005A>G, NM_000314.4:c.1005A>T, NM_001304717.5:c.1524A>G, NM_001304717.5:c.1524A>T, NM_001304717.4:c.1524A>G, NM_001304717.4:c.1524A>T, NM_001304717.3:c.1524A>G, NM_001304717.3:c.1524A>T, NM_001304717.2:c.1524A>G, NM_001304717.2:c.1524A>T, NM_001304717.1:c.1524A>G, NM_001304717.1:c.1524A>T, NM_001304718.2:c.414A>G, NM_001304718.2:c.414A>T, NM_001304718.1:c.414A>G, NM_001304718.1:c.414A>T, NW_013171807.1:g.176886A>G, NW_013171807.1:g.176886A>T

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