Details for USH2A:c.2802T>G, p.Cys934Trp

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
216419934216246592
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE USH2A
REFERENCE ALLELE A
ALTERNATE ALLELE C
TRANSCRIPT NM_206933.2
CDNA CHANGE c.2802T>G
PROTEIN CHANGE p.Cys934Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00080.00.00.0040.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00021110.00.00.00049660.0025030.00.00.00016333.266e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.649649Disease causing
DBSNP ID rs201527662
1 combination linked to USH2A:c.2802T>G, p.Cys934Trp OLI449
1 disease linked to USH2A:c.2802T>G, p.Cys934Trp Retinitis pigmentosa
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