Details for USH2A:c.13939G>C, p.Gly4647Arg

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
215844508215671166
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE USH2A
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_206933.2
CDNA CHANGE c.13939G>C
PROTEIN CHANGE p.Gly4647Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.0020.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.98e-050.00.00.00.00054410.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.762714Polymorphism
DBSNP ID rs144524302
1 combination linked to USH2A:c.13939G>C, p.Gly4647Arg OLI449
1 disease linked to USH2A:c.13939G>C, p.Gly4647Arg Retinitis pigmentosa
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