SNP Links for Protein (Select 530376879) - SNP

Links from Protein

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Select item 14907706811.

rs1490770681 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGA>- [Show Flanks]
Chromosome:: 4:55999335 (GRCh38)
4:56865501 (GRCh37)
Canonical SPDI:: NC_000004.12:55999331:TGATGA:TGA
Gene:: CEP135 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.55999332TGA[1], NC_000004.11:g.56865498TGA[1], NG_032806.1:g.55525TGA[1], NM_025009.5:c.2040TGA[1], NM_025009.4:c.2040TGA[1], XM_005265788.5:c.969TGA[1], XM_005265788.4:c.969TGA[1], XM_005265788.3:c.969TGA[1], XM_005265788.2:c.969TGA[1], XM_005265788.1:c.969TGA[1], XM_006714055.4:c.2007TGA[1], XM_006714055.3:c.2007TGA[1], XM_006714055.2:c.2007TGA[1], XM_006714055.1:c.2007TGA[1], XM_011534412.2:c.510TGA[1], XM_011534412.1:c.510TGA[1], NM_014645.1:c.1158TGA[1], NP_079285.2:p.Asp682del, XP_005265845.1:p.Asp325del, XP_006714118.1:p.Asp671del, XP_011532714.1:p.Asp172del

Select item 14870735582.

rs1487073558 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:55974837 (GRCh38)
4:56841003 (GRCh37)
Canonical SPDI:: NC_000004.12:55974836:G:T
Gene:: CEP135 (Varview), LOC124900705 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,intron_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.55974837G>T, NC_000004.11:g.56841003G>T, NG_032806.1:g.31030G>T, NM_025009.5:c.1341G>T, NM_025009.4:c.1341G>T, XM_005265788.5:c.270G>T, XM_005265788.4:c.270G>T, XM_005265788.3:c.270G>T, XM_005265788.2:c.270G>T, XM_005265788.1:c.270G>T, XM_006714055.4:c.1308G>T, XM_006714055.3:c.1308G>T, XM_006714055.2:c.1308G>T, XM_006714055.1:c.1308G>T, NM_014645.1:c.459G>T

Select item 14853251133.

rs1485325113 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:56024539 (GRCh38)
4:56890705 (GRCh37)
Canonical SPDI:: NC_000004.12:56024538:C:T
Gene:: CEP135 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.56024539C>T, NC_000004.11:g.56890705C>T, NG_032806.1:g.80732C>T, NM_025009.5:c.3359C>T, NM_025009.4:c.3359C>T, XM_005265788.5:c.2288C>T, XM_005265788.4:c.2288C>T, XM_005265788.3:c.2288C>T, XM_005265788.2:c.2288C>T, XM_005265788.1:c.2288C>T, XM_006714055.4:c.3326C>T, XM_006714055.3:c.3326C>T, XM_006714055.2:c.3326C>T, XM_006714055.1:c.3326C>T, XM_011534412.2:c.1829C>T, XM_011534412.1:c.1829C>T, NM_014645.1:c.2477C>T, NP_079285.2:p.Ala1120Val, XP_005265845.1:p.Ala763Val, XP_006714118.1:p.Ala1109Val, XP_011532714.1:p.Ala610Val

Select item 14832363394.

rs1483236339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:56009865 (GRCh38)
4:56876031 (GRCh37)
Canonical SPDI:: NC_000004.12:56009864:C:T
Gene:: CEP135 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.56009865C>T, NC_000004.11:g.56876031C>T, NG_032806.1:g.66058C>T, NM_025009.5:c.2467C>T, NM_025009.4:c.2467C>T, XM_005265788.5:c.1396C>T, XM_005265788.4:c.1396C>T, XM_005265788.3:c.1396C>T, XM_005265788.2:c.1396C>T, XM_005265788.1:c.1396C>T, XM_006714055.4:c.2434C>T, XM_006714055.3:c.2434C>T, XM_006714055.2:c.2434C>T, XM_006714055.1:c.2434C>T, XM_011534412.2:c.937C>T, XM_011534412.1:c.937C>T, NM_014645.1:c.1585C>T

Select item 14813091295.

rs1481309129 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:55980288 (GRCh38)
4:56846454 (GRCh37)
Canonical SPDI:: NC_000004.12:55980287:A:G
Gene:: CEP135 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.55980288A>G, NC_000004.11:g.56846454A>G, NG_032806.1:g.36481A>G, NM_025009.5:c.1619A>G, NM_025009.4:c.1619A>G, XM_005265788.5:c.548A>G, XM_005265788.4:c.548A>G, XM_005265788.3:c.548A>G, XM_005265788.2:c.548A>G, XM_005265788.1:c.548A>G, XM_006714055.4:c.1586A>G, XM_006714055.3:c.1586A>G, XM_006714055.2:c.1586A>G, XM_006714055.1:c.1586A>G, XM_011534412.2:c.89A>G, XM_011534412.1:c.89A>G, NM_014645.1:c.737A>G, NP_079285.2:p.Tyr540Cys, XP_005265845.1:p.Tyr183Cys, XP_006714118.1:p.Tyr529Cys, XP_011532714.1:p.Tyr30Cys

Select item 14806183166.

rs1480618316 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:56011883 (GRCh38)
4:56878049 (GRCh37)
Canonical SPDI:: NC_000004.12:56011882:T:C
Gene:: CEP135 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.56011883T>C, NC_000004.11:g.56878049T>C, NG_032806.1:g.68076T>C, NM_025009.5:c.2700T>C, NM_025009.4:c.2700T>C, XM_005265788.5:c.1629T>C, XM_005265788.4:c.1629T>C, XM_005265788.3:c.1629T>C, XM_005265788.2:c.1629T>C, XM_005265788.1:c.1629T>C, XM_006714055.4:c.2667T>C, XM_006714055.3:c.2667T>C, XM_006714055.2:c.2667T>C, XM_006714055.1:c.2667T>C, XM_011534412.2:c.1170T>C, XM_011534412.1:c.1170T>C, NM_014645.1:c.1818T>C

Select item 14799725177.

rs1479972517 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:55981290 (GRCh38)
4:56847456 (GRCh37)
Canonical SPDI:: NC_000004.12:55981289:G:T
Gene:: CEP135 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.55981290G>T, NC_000004.11:g.56847456G>T, NG_032806.1:g.37483G>T, NM_025009.5:c.1690G>T, NM_025009.4:c.1690G>T, XM_005265788.5:c.619G>T, XM_005265788.4:c.619G>T, XM_005265788.3:c.619G>T, XM_005265788.2:c.619G>T, XM_005265788.1:c.619G>T, XM_006714055.4:c.1657G>T, XM_006714055.3:c.1657G>T, XM_006714055.2:c.1657G>T, XM_006714055.1:c.1657G>T, XM_011534412.2:c.160G>T, XM_011534412.1:c.160G>T, NM_014645.1:c.808G>T, NP_079285.2:p.Val564Phe, XP_005265845.1:p.Val207Phe, XP_006714118.1:p.Val553Phe, XP_011532714.1:p.Val54Phe

Select item 14790902798.

rs1479090279 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:55969097 (GRCh38)
4:56835263 (GRCh37)
Canonical SPDI:: NC_000004.12:55969096:A:G
Gene:: CEP135 (Varview), LOC124900705 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.55969097A>G, NC_000004.11:g.56835263A>G, NG_032806.1:g.25290A>G, NM_025009.5:c.1079A>G, NM_025009.4:c.1079A>G, XM_005265788.5:c.8A>G, XM_005265788.4:c.8A>G, XM_005265788.3:c.8A>G, XM_005265788.2:c.8A>G, XM_005265788.1:c.8A>G, XM_006714055.4:c.1046A>G, XM_006714055.3:c.1046A>G, XM_006714055.2:c.1046A>G, XM_006714055.1:c.1046A>G, NM_014645.1:c.197A>G, NP_079285.2:p.Asp360Gly, XP_005265845.1:p.Asp3Gly, XP_006714118.1:p.Asp349Gly

Select item 14786979429.

rs1478697942 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGT [Show Flanks]
Chromosome:: 4:56017846 (GRCh38)
4:56884013 (GRCh37)
Canonical SPDI:: NC_000004.12:56017846:AGT:AGTAGT
Gene:: CEP135 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: AGTAGT=0./0 (ALFA)
AGT=0.000004/1 (GnomAD_exomes)
AGT=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.56017847_56017849dup, NC_000004.11:g.56884013_56884015dup, NG_032806.1:g.74040_74042dup, NM_025009.5:c.3002_3004dup, NM_025009.4:c.3002_3004dup, XM_005265788.5:c.1931_1933dup, XM_005265788.4:c.1931_1933dup, XM_005265788.3:c.1931_1933dup, XM_005265788.2:c.1931_1933dup, XM_005265788.1:c.1931_1933dup, XM_006714055.4:c.2969_2971dup, XM_006714055.3:c.2969_2971dup, XM_006714055.2:c.2969_2971dup, XM_006714055.1:c.2969_2971dup, XM_011534412.2:c.1472_1474dup, XM_011534412.1:c.1472_1474dup, NM_014645.1:c.2120_2122dup, NP_079285.2:p.Phe1002Ter, XP_005265845.1:p.Phe645Ter, XP_006714118.1:p.Phe991Ter, XP_011532714.1:p.Phe492Ter

Select item 147676415110.

rs1476764151 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:55999349 (GRCh38)
4:56865515 (GRCh37)
Canonical SPDI:: NC_000004.12:55999348:G:A,NC_000004.12:55999348:G:T
Gene:: CEP135 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.55999349G>A, NC_000004.12:g.55999349G>T, NC_000004.11:g.56865515G>A, NC_000004.11:g.56865515G>T, NG_032806.1:g.55542G>A, NG_032806.1:g.55542G>T, NM_025009.5:c.2057G>A, NM_025009.5:c.2057G>T, NM_025009.4:c.2057G>A, NM_025009.4:c.2057G>T, XM_005265788.5:c.986G>A, XM_005265788.5:c.986G>T, XM_005265788.4:c.986G>A, XM_005265788.4:c.986G>T, XM_005265788.3:c.986G>A, XM_005265788.3:c.986G>T, XM_005265788.2:c.986G>A, XM_005265788.2:c.986G>T, XM_005265788.1:c.986G>A, XM_005265788.1:c.986G>T, XM_006714055.4:c.2024G>A, XM_006714055.4:c.2024G>T, XM_006714055.3:c.2024G>A, XM_006714055.3:c.2024G>T, XM_006714055.2:c.2024G>A, XM_006714055.2:c.2024G>T, XM_006714055.1:c.2024G>A, XM_006714055.1:c.2024G>T, XM_011534412.2:c.527G>A, XM_011534412.2:c.527G>T, XM_011534412.1:c.527G>A, XM_011534412.1:c.527G>T, NM_014645.1:c.1175G>A, NM_014645.1:c.1175G>T, NP_079285.2:p.Arg686Gln, NP_079285.2:p.Arg686Leu, XP_005265845.1:p.Arg329Gln, XP_005265845.1:p.Arg329Leu, XP_006714118.1:p.Arg675Gln, XP_006714118.1:p.Arg675Leu, XP_011532714.1:p.Arg176Gln, XP_011532714.1:p.Arg176Leu

Select item 147649621411.

rs1476496214 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:56019425 (GRCh38)
4:56885591 (GRCh37)
Canonical SPDI:: NC_000004.12:56019424:A:G
Gene:: CEP135 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000044/11 (GnomAD_exomes)
G=0.000045/12 (TOPMED)
G=0.000057/8 (GnomAD)
G=0.000342/1 (KOREAN)
HGVS:: NC_000004.12:g.56019425A>G, NC_000004.11:g.56885591A>G, NG_032806.1:g.75618A>G, NM_025009.5:c.3085A>G, NM_025009.4:c.3085A>G, XM_005265788.5:c.2014A>G, XM_005265788.4:c.2014A>G, XM_005265788.3:c.2014A>G, XM_005265788.2:c.2014A>G, XM_005265788.1:c.2014A>G, XM_006714055.4:c.3052A>G, XM_006714055.3:c.3052A>G, XM_006714055.2:c.3052A>G, XM_006714055.1:c.3052A>G, XM_011534412.2:c.1555A>G, XM_011534412.1:c.1555A>G, NM_014645.1:c.2203A>G, NP_079285.2:p.Thr1029Ala, XP_005265845.1:p.Thr672Ala, XP_006714118.1:p.Thr1018Ala, XP_011532714.1:p.Thr519Ala

Select item 147589436512.

rs1475894365 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 4:56019484 (GRCh38)
4:56885650 (GRCh37)
Canonical SPDI:: NC_000004.12:56019483:C:
Gene:: CEP135 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0.000142/2 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.56019484del, NC_000004.11:g.56885650del, NG_032806.1:g.75677del, NM_025009.5:c.3144del, NM_025009.4:c.3144del, XM_005265788.5:c.2073del, XM_005265788.4:c.2073del, XM_005265788.3:c.2073del, XM_005265788.2:c.2073del, XM_005265788.1:c.2073del, XM_006714055.4:c.3111del, XM_006714055.3:c.3111del, XM_006714055.2:c.3111del, XM_006714055.1:c.3111del, XM_011534412.2:c.1614del, XM_011534412.1:c.1614del, NM_014645.1:c.2262del, NP_079285.2:p.His1048_Leu1049insTer, XP_005265845.1:p.His691_Leu692insTer, XP_006714118.1:p.His1037_Leu1038insTer, XP_011532714.1:p.His538_Leu539insTer

Select item 147486140413.

rs1474861404 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:56017664 (GRCh38)
4:56883830 (GRCh37)
Canonical SPDI:: NC_000004.12:56017663:A:G
Gene:: CEP135 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.56017664A>G, NC_000004.11:g.56883830A>G, NG_032806.1:g.73857A>G, NM_025009.5:c.2819A>G, NM_025009.4:c.2819A>G, XM_005265788.5:c.1748A>G, XM_005265788.4:c.1748A>G, XM_005265788.3:c.1748A>G, XM_005265788.2:c.1748A>G, XM_005265788.1:c.1748A>G, XM_006714055.4:c.2786A>G, XM_006714055.3:c.2786A>G, XM_006714055.2:c.2786A>G, XM_006714055.1:c.2786A>G, XM_011534412.2:c.1289A>G, XM_011534412.1:c.1289A>G, NM_014645.1:c.1937A>G, NP_079285.2:p.His940Arg, XP_005265845.1:p.His583Arg, XP_006714118.1:p.His929Arg, XP_011532714.1:p.His430Arg

Select item 147365011714.

rs1473650117 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:55981245 (GRCh38)
4:56847411 (GRCh37)
Canonical SPDI:: NC_000004.12:55981244:G:C
Gene:: CEP135 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.55981245G>C, NC_000004.11:g.56847411G>C, NG_032806.1:g.37438G>C, NM_025009.5:c.1645G>C, NM_025009.4:c.1645G>C, XM_005265788.5:c.574G>C, XM_005265788.4:c.574G>C, XM_005265788.3:c.574G>C, XM_005265788.2:c.574G>C, XM_005265788.1:c.574G>C, XM_006714055.4:c.1612G>C, XM_006714055.3:c.1612G>C, XM_006714055.2:c.1612G>C, XM_006714055.1:c.1612G>C, XM_011534412.2:c.115G>C, XM_011534412.1:c.115G>C, NM_014645.1:c.763G>C, NP_079285.2:p.Ala549Pro, XP_005265845.1:p.Ala192Pro, XP_006714118.1:p.Ala538Pro, XP_011532714.1:p.Ala39Pro

Select item 147280197715.

rs1472801977 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTA>- [Show Flanks]
Chromosome:: 4:55992081 (GRCh38)
4:56858247 (GRCh37)
Canonical SPDI:: NC_000004.12:55992079:ACTTA:A
Gene:: CEP135 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.55992081_55992084del, NC_000004.11:g.56858247_56858250del, NG_032806.1:g.48274_48277del, NM_025009.5:c.2005_2008del, NM_025009.4:c.2005_2008del, XM_005265788.5:c.934_937del, XM_005265788.4:c.934_937del, XM_005265788.3:c.934_937del, XM_005265788.2:c.934_937del, XM_005265788.1:c.934_937del, XM_006714055.4:c.1972_1975del, XM_006714055.3:c.1972_1975del, XM_006714055.2:c.1972_1975del, XM_006714055.1:c.1972_1975del, XM_011534412.2:c.475_478del, XM_011534412.1:c.475_478del, NM_014645.1:c.1123_1126del, NP_079285.2:p.Leu669fs, XP_005265845.1:p.Leu312fs, XP_006714118.1:p.Leu658fs, XP_011532714.1:p.Leu159fs

Select item 147205720016.

rs1472057200 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:55981373 (GRCh38)
4:56847539 (GRCh37)
Canonical SPDI:: NC_000004.12:55981372:A:G
Gene:: CEP135 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.55981373A>G, NC_000004.11:g.56847539A>G, NG_032806.1:g.37566A>G, NM_025009.5:c.1773A>G, NM_025009.4:c.1773A>G, XM_005265788.5:c.702A>G, XM_005265788.4:c.702A>G, XM_005265788.3:c.702A>G, XM_005265788.2:c.702A>G, XM_005265788.1:c.702A>G, XM_006714055.4:c.1740A>G, XM_006714055.3:c.1740A>G, XM_006714055.2:c.1740A>G, XM_006714055.1:c.1740A>G, XM_011534412.2:c.243A>G, XM_011534412.1:c.243A>G, NM_014645.1:c.891A>G

Select item 147046919017.

rs1470469190 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:56017755 (GRCh38)
4:56883921 (GRCh37)
Canonical SPDI:: NC_000004.12:56017754:A:G
Gene:: CEP135 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.56017755A>G, NC_000004.11:g.56883921A>G, NG_032806.1:g.73948A>G, NM_025009.5:c.2910A>G, NM_025009.4:c.2910A>G, XM_005265788.5:c.1839A>G, XM_005265788.4:c.1839A>G, XM_005265788.3:c.1839A>G, XM_005265788.2:c.1839A>G, XM_005265788.1:c.1839A>G, XM_006714055.4:c.2877A>G, XM_006714055.3:c.2877A>G, XM_006714055.2:c.2877A>G, XM_006714055.1:c.2877A>G, XM_011534412.2:c.1380A>G, XM_011534412.1:c.1380A>G, NM_014645.1:c.2028A>G

Select item 146977065818.

rs1469770658 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:56011432 (GRCh38)
4:56877598 (GRCh37)
Canonical SPDI:: NC_000004.12:56011431:A:C
Gene:: CEP135 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.56011432A>C, NC_000004.11:g.56877598A>C, NG_032806.1:g.67625A>C, NM_025009.5:c.2526A>C, NM_025009.4:c.2526A>C, XM_005265788.5:c.1455A>C, XM_005265788.4:c.1455A>C, XM_005265788.3:c.1455A>C, XM_005265788.2:c.1455A>C, XM_005265788.1:c.1455A>C, XM_006714055.4:c.2493A>C, XM_006714055.3:c.2493A>C, XM_006714055.2:c.2493A>C, XM_006714055.1:c.2493A>C, XM_011534412.2:c.996A>C, XM_011534412.1:c.996A>C, NM_014645.1:c.1644A>C, NP_079285.2:p.Glu842Asp, XP_005265845.1:p.Glu485Asp, XP_006714118.1:p.Glu831Asp, XP_011532714.1:p.Glu332Asp

Select item 146896848919.

rs1468968489 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:56011966 (GRCh38)
4:56878132 (GRCh37)
Canonical SPDI:: NC_000004.12:56011965:T:C
Gene:: CEP135 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.56011966T>C, NC_000004.11:g.56878132T>C, NG_032806.1:g.68159T>C, NM_025009.5:c.2783T>C, NM_025009.4:c.2783T>C, XM_005265788.5:c.1712T>C, XM_005265788.4:c.1712T>C, XM_005265788.3:c.1712T>C, XM_005265788.2:c.1712T>C, XM_005265788.1:c.1712T>C, XM_006714055.4:c.2750T>C, XM_006714055.3:c.2750T>C, XM_006714055.2:c.2750T>C, XM_006714055.1:c.2750T>C, XM_011534412.2:c.1253T>C, XM_011534412.1:c.1253T>C, NM_014645.1:c.1901T>C, NP_079285.2:p.Leu928Ser, XP_005265845.1:p.Leu571Ser, XP_006714118.1:p.Leu917Ser, XP_011532714.1:p.Leu418Ser

Select item 146893057020.

rs1468930570 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:56020755 (GRCh38)
4:56886922 (GRCh37)
Canonical SPDI:: NC_000004.12:56020755:A:AA
Gene:: CEP135 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.56020756dup, NC_000004.11:g.56886922dup, NG_032806.1:g.76949dup, NM_025009.5:c.3296dup, NM_025009.4:c.3296dup, XM_005265788.5:c.2225dup, XM_005265788.4:c.2225dup, XM_005265788.3:c.2225dup, XM_005265788.2:c.2225dup, XM_005265788.1:c.2225dup, XM_006714055.4:c.3263dup, XM_006714055.3:c.3263dup, XM_006714055.2:c.3263dup, XM_006714055.1:c.3263dup, XM_011534412.2:c.1766dup, XM_011534412.1:c.1766dup, NM_014645.1:c.2414dup, NP_079285.2:p.Ile1100fs, XP_005265845.1:p.Ile743fs, XP_006714118.1:p.Ile1089fs, XP_011532714.1:p.Ile590fs

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