Transcript #00003116

Transcript name transcript variant 1
Gene name USH2A (Usher syndrome 2A (autosomal recessive, mild))
Chromosome 1
Transcript - NCBI ID NM_007123.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_009054.5
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

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

Affects function     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
+?/+? c.653T>A p.(Val218Glu) missense_variant,splice_region_variant - 4/21 probably_damaging(0.962) r.(?) deleterious(0)
+/+ c.820C>T p.(Arg274*) stop_gained - 5/21 - r.(?) -
?/? c.920_921insGCCA p.(Ser307Argfs*17) frameshift_variant - 6/21 - r.(?) -
?/? c.923_924insGCCA p.(His308Glnfs*16) - - - - r.(?) -
+/+ c.949C>A p.(=) synonymous_variant - 6/21 - r.(=) -
+?/+? c.1036A>C p.(Asn346His) missense_variant - 6/21 probably_damaging(1) r.(?) deleterious(0)
+/+ c.1143+1G>A p.? splice_donor_variant - - - r.spl? -
+?/+? c.1227G>C p.(Trp409Cys) missense_variant - 7/21 probably_damaging(0.997) r.(?) deleterious(0)
+/+ c.1256G>T p.(Cys419Phe) missense_variant - 7/21 probably_damaging(1) r.(?) deleterious(0)
+/+ c.1606T>C p.(Cys536Arg) missense_variant - 9/21 probably_damaging(0.999) r.(?) deleterious(0)
+/+ c.1841-2A>G p.? splice_acceptor_variant - - - r.spl? -
+/+ c.2209C>T p.(Arg737*) stop_gained - 13/21 - r.(?) -
+/+ c.2276G>T p.(Cys759Phe) missense_variant - 13/21 probably_damaging(0.999) r.(?) deleterious(0)
./. c.2279A>G p.(Asn760Ser) - - - - r.(?) -
+/+ c.2299del p.(Glu767Serfs*21) - - - - r.(?) -
+/+ c.2898del p.(Thr967Leufs*44) - - - - r.(?) -
./. c.3157+12C>T p.(=) - - - - r.(=) -
+/+ c.3309C>A p.(Tyr1103*) stop_gained - 16/21 - r.(?) -
./. c.3317-14del p.(=) - - - - r.(=) -
./. c.3320T>G p.(Ile1107Ser) - - - - r.(?) -
./. c.3342C>T p.(=) - - - - r.(=) -
./. c.3367T>C p.(Tyr1123His) - - - - r.(?) -
+/+ c.3435del p.(Val1147Serfs*6) - - - - r.(?) -
./. c.3489C>T p.(=) - - - - r.(=) -
./. c.3532C>G p.(Pro1178Ala) - - - - r.(?) -
+/+ c.3547_3548del p.(Ile1183Phefs*19) - - - - r.(?) -
+/+ c.3558del p.(Cys1186Trpfs*51) - - - - r.(?) -
?/? c.4133_4134insTC p.(Asn1379Profs*54) frameshift_variant - 19/21 - r.(?) -
?/? c.4134_4135insTC p.(Asn1379Serfs*54) - - - - r.(?) -
./. c.4321G>T p.(Glu1441*) - - - - r.(?) -
+/+ c.4338_4339del p.(Cys1447Glnfs*29) - - - - r.(?) -
./. c.4474G>T p.(Glu1492*) - - - - r.(?) -
Legend