View transcript #00003348

Transcript name transcript variant 2
Gene name USH2A (Usher syndrome 2A (autosomal recessive, mild))
Chromosome 1
Transcript - NCBI ID NM_206933.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_996816.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

64 entries on 1 page. Showing entries 1 - 64.
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.2299del p.(Glu767Serfs*21) - - - - r.(?) -
+/+ c.2898del p.(Thr967Leufs*44) - - - - r.(?) -
+/+ c.3309C>A p.(Tyr1103*) stop_gained - 16/21 - r.(?) -
+/+ c.3435del p.(Val1147Serfs*6) - - - - 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.4338_4339del p.(Cys1447Glnfs*29) - - - - r.(?) -
+/+ c.5001_5002insA p.(Gly1668Argfs*30) - - - - r.(?) -
+?/+? c.5581G>A p.(Gly1861Ser) missense_variant - 28/72 probably_damaging(0.967) r.(?) deleterious(0)
+/+ c.5788C>T p.(Arg1930*) stop_gained - 29/72 - r.(?) -
+/+ c.5857+2T>C p.? splice_donor_variant - - - r.spl? -
+/+ c.5858-1G>A p.? splice_acceptor_variant - - - r.spl? -
+/+ c.6224G>A p.(Trp2075*) stop_gained - 32/72 - r.(?) -
+?/+? c.6289_6302del p.(Ile2097*) - - - - r.(?) -
+/+ c.7244C>G p.(Ser2415*) stop_gained - 38/72 - r.(?) -
+?/+? c.8431C>A p.(Pro2811Thr) missense_variant - 42/72 possibly_damaging(0.78) r.(?) tolerated(0.3)
+/+ c.8559-2A>G p.? splice_acceptor_variant - - - r.spl? -
+/+ c.8981G>A p.(Trp2994*) stop_gained - 45/72 - r.(?) -
+/+ c.9159T>G p.(Tyr3053*) stop_gained - 46/72 - r.(?) -
+/+ c.9304C>T p.(Gln3102*) stop_gained - 47/72 - r.(?) -
+/+ c.9371+1G>C p.? splice_donor_variant - - - r.spl? -
+/+ c.9424G>T p.(Gly3142*) stop_gained - 48/72 - r.(?) -
+/+ c.9459C>A p.(Cys3153*) stop_gained - 48/72 - r.(?) -
+/+ c.9459C>T p.(=) synonymous_variant - 48/72 - r.(=) -
+?/+? c.9799T>C p.(Cys3267Arg) missense_variant - 50/72 probably_damaging(1) r.(?) deleterious(0)
+/+ c.10190_10191del p.(Lys3397Argfs*20) - - - - r.(?) -
+?/+? c.10450C>T p.(Arg3484*) stop_gained - 53/72 - r.(?) -
+/+ c.10561T>C p.(Trp3521Arg) missense_variant - 53/72 probably_damaging(1) r.(?) deleterious(0)
+?/+? c.10712C>T p.(Thr3571Met) missense_variant - 54/72 probably_damaging(0.968) r.(?) deleterious(0)
+?/+? c.10724G>A p.(Cys3575Tyr) missense_variant - 54/72 possibly_damaging(0.882) r.(?) deleterious(0)
+?/+? c.10759C>T p.(Gln3587*) stop_gained - 55/72 - r.(?) -
+/+ c.11048-1G>A p.? splice_acceptor_variant - - - r.spl? -
+?/+? c.11231+1G>T p.? splice_donor_variant - - - r.spl? -
+/+ c.11411del p.(Pro3804Leufs*13) - - - - r.(?) -
+/+ c.11864G>A p.(Trp3955*) stop_gained - 61/72 - r.(?) -
+/+ c.11954G>A p.(Trp3985*) stop_gained - 61/72 - r.(?) -
+/+ c.12067-2A>G p.? splice_acceptor_variant - - - r.spl? -
+/+ c.12067-1G>C p.? splice_acceptor_variant - - - r.spl? -
+?/+? c.12294+1G>C p.? splice_donor_variant - - - r.spl? -
+/+ c.12295-2A>G p.? splice_acceptor_variant - - - r.spl? -
+/+ c.12714T>G p.(Tyr4238*) stop_gained - 63/72 - r.(?) -
+?/+? c.12739G>A p.(Gly4247Arg) missense_variant - 63/72 probably_damaging(0.993) r.(?) deleterious(0)
+/+ c.12868C>T p.(Gln4290*) stop_gained - 63/72 - r.(?) -
+?/+? c.13130C>A p.(Ser4377*) stop_gained - 63/72 - r.(?) -
+?/+? c.13313G>A p.(Trp4438*) stop_gained - 63/72 - r.(?) -
+/+ c.14031_14032insA p.(Ala4678Serfs*5) - - - - r.(?) -
+/+ c.14180G>A p.(Trp4727*) stop_gained - 65/72 - r.(?) -
+?/+? c.14287G>A p.(Gly4763Arg) missense_variant - 65/72 probably_damaging(0.999) r.(?) deleterious(0)
+/+ c.14911C>T p.(Arg4971*) stop_gained - 68/72 - r.(?) -
Legend