Details for USH2A:c.10830G>C, p.Trp3610Cys

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
215953294215779952
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE USH2A
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_206933.2
CDNA CHANGE c.10830G>C
PROTEIN CHANGE p.Trp3610Cys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.252046Disease causing
DBSNP ID NA
1 combination linked to USH2A:c.10830G>C, p.Trp3610Cys OLI449
1 disease linked to USH2A:c.10830G>C, p.Trp3610Cys Retinitis pigmentosa
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