Full data view for gene USH2A

Information The variants shown are described using the transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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Effect     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Date     

Template     

Technique     

Tissue     

Description     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Consanguinity     

Age of death     

Cause of death     

Remarks     

Panel size     

Owner     
+?/+? c.653T>A p.(Val218Glu) missense_variant,splice_region_variant - 4/21 probably_damaging(0.962) r.(?) deleterious(0) Unknown subst g.216538426A>T - 5.500 - USH2A_000028 rs397518026 - ; clinvar; 17405132;11311042;20052763;18281613 - - - - - - - - - - - - - - - - - - -
+/+ c.820C>T p.(Arg274*) stop_gained - 5/21 - r.(?) - Unknown subst g.216500961G>A - 4.850 - USH2A_000027 rs397518036 - ; clinvar; 22004887 - - - - - - - - - - - - - - - - - - -
?/? c.920_921insGCCA p.(Ser307Argfs*17) frameshift_variant - 6/21 - r.(?) - Unknown ins g.216498869_216498870insTGGC - - - USH2A_000026 - - ; - - - - - - - - - - - - - - - - - - - -
?/? c.923_924insGCCA p.(His308Glnfs*16) - - - - r.(?) - Unknown ins g.216498866_216498867insTGGC - - - USH2A_000046 rs397518043 - ; 10729113;10909849;15025721;18641288;19683999;14970843;18273898;15241801;15325563;11311042 - - - - - - - - - - - - - - - - - - -
+/+ c.949C>A p.(=) synonymous_variant - 6/21 - r.(=) - Unknown subst g.216498841G>T - 1.900 - USH2A_000045 rs111033272 - ; clinVar; Ensembl; 15325563;18273898;15015129;15043528;15241801 - - - - - - - - - - - - - - - - - - -
+?/+? c.1036A>C p.(Asn346His) missense_variant - 6/21 probably_damaging(1) r.(?) deleterious(0) Unknown subst g.216498754T>G - 5.360 - USH2A_000044 rs369522997 - ; clinvar; 10909849;15025721;17405132;22681893;10729113;15241801 - - - - - - - - - - - - - - - - - - -
+/+ c.1143+1G>A p.? splice_donor_variant - - - r.spl? - Unknown subst g.216498646C>T - 4.450 - USH2A_000043 rs397517974 - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+?/+? c.1227G>C p.(Trp409Cys) missense_variant - 7/21 probably_damaging(0.997) r.(?) deleterious(0) Unknown subst g.216497611C>G - 5.640 - USH2A_000062 rs397517979 - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ c.1256G>T p.(Cys419Phe) missense_variant - 7/21 probably_damaging(1) r.(?) deleterious(0) Unknown subst g.216497582C>A - 5.420 - USH2A_000061 rs121912600 - ; clinVar; Ensembl; 10729113;15241801;15015129;15325563 - - - - - - - - - - - - - - - - - - -
+/+ c.1606T>C p.(Cys536Arg) missense_variant - 9/21 probably_damaging(0.999) r.(?) deleterious(0) Unknown subst g.216495263A>G - 5.650 - USH2A_000060 rs111033273 - ; clinVar; Ensembl; 15043528;10909849 - - - - - - - - - - - - - - - - - - -
+/+ c.1841-2A>G p.? splice_acceptor_variant - - - r.spl? - Unknown subst g.216462754T>C - 5.430 - USH2A_000021 rs397518003 - ; clinvar; 18641288;19683999;12525556;15823922;20497194;21487335;21738395;22004887 - - - - - - - - - - - - - - - - - - -
+/+ c.2209C>T p.(Arg737*) stop_gained - 13/21 - r.(?) - Unknown subst g.216420527G>A - 3.590 - USH2A_000020 rs111033334 - ; clinVar; Ensembl; 17296898;18452394 - - - - - - - - - - - - - - - - - - -
+/+ c.2276G>T p.(Cys759Phe) missense_variant - 13/21 probably_damaging(0.999) r.(?) deleterious(0) Unknown subst g.216420460C>A - 5.790 - USH2A_000019 rs80338902 - ; clinVar; Ensembl; 10909849;16098008;17085681;17405132;18641288;10775529;21151602;12525556;14970843;15325563;{PMID - - - - - - - - - - - - - - - - - - -
./. c.2279A>G p.(Asn760Ser) - - - - r.(?) - Unknown - g.216420457T>C - - - USH2A_000082 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ c.2299del p.(Glu767Serfs*21) - - - - r.(?) - Unknown del g.216420437del - 2.370 - USH2A_000018 rs80338903 - ; clinVar; Ensembl; 12112664;14970843;20301515;10909849;11402400;10729113;15025721 - - - - - - - - - - - - - - - - - - -
+/+ c.2898del p.(Thr967Leufs*44) - - - - r.(?) - Unknown del g.216405390del - -11.900 - USH2A_000017 rs397518008 - ; clinvar; 19683999;15325563;10729113;9624053 - - - - - - - - - - - - - - - - - - -
./. c.3157+12C>T p.(=) - - - - r.(=) - Unknown - g.216390717G>A - - - USH2A_000081 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ c.3309C>A p.(Tyr1103*) stop_gained - 16/21 - r.(?) - Unknown subst g.216380622G>T - 1.800 - USH2A_000016 rs397518011 - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. c.3317-14del p.(=) - - - - r.(=) - Unknown - g.216373477del - - - USH2A_000080 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. c.3320T>G p.(Ile1107Ser) - - - - r.(?) - Unknown - g.216373460A>C - - - USH2A_000079 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. c.3342C>T p.(=) - - - - r.(=) - Unknown - g.216373438G>A - - - USH2A_000078 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. c.3367T>C p.(Tyr1123His) - - - - r.(?) - Unknown - g.216373413A>G - - - USH2A_000077 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ c.3435del p.(Val1147Serfs*6) - - - - r.(?) - Unknown del g.216373345del - -6.640 - USH2A_000040 rs397518012 - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. c.3489C>T p.(=) - - - - r.(=) - Unknown - g.216373291G>A - - - USH2A_000076 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. c.3532C>G p.(Pro1178Ala) - - - - r.(?) - Unknown - g.216373248G>C - - - USH2A_000075 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ c.3547_3548del p.(Ile1183Phefs*19) - - - - r.(?) - Unknown del g.216373232_216373233del - - - USH2A_000039 rs397518013 - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ c.3558del p.(Cys1186Trpfs*51) - - - - r.(?) - Unknown del g.216373222del - -3.680 - USH2A_000038 rs397518014 - ; clinvar; 20613545 - - - - - - - - - - - - - - - - - - -
?/? c.4133_4134insTC p.(Asn1379Profs*54) frameshift_variant - 19/21 - r.(?) - Unknown ins g.216370012_216370013insGA - - - USH2A_000037 - - ; - - - - - - - - - - - - - - - - - - - -
?/? c.4134_4135insTC p.(Asn1379Serfs*54) - - - - r.(?) - Unknown ins g.216370011_216370012insGA - - - USH2A_000036 rs397518015 - ; - - - - - - - - - - - - - - - - - - - -
./. c.4321G>T p.(Glu1441*) - - - - r.(?) - Unknown - g.216363640C>A - - - USH2A_000083 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ c.4338_4339del p.(Cys1447Glnfs*29) - - - - r.(?) - Unknown del g.216363622_216363623del - - - USH2A_000035 rs111033367 - ; clinVar; Ensembl; 15325563;10729113;20613545;18665195;9624053 - - - - - - - - - - - - - - - - - - -
./. c.4474G>T p.(Glu1492*) - - - - r.(?) - Unknown - g.216348747C>A - - - USH2A_000090 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
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