Details for USH1G:c.1093G>A, p.Asp365Asn

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
7291583874919743
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE USH1G
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_173477.4
CDNA CHANGE c.1093G>A
PROTEIN CHANGE p.Asp365Asn
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.207e-050.00.00.05.46e-050.00.00.00.0002287

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign3.368806Disease causing
DBSNP ID rs538983393
1 combination linked to USH1G:c.1093G>A, p.Asp365Asn OLI454
1 disease linked to USH1G:c.1093G>A, p.Asp365Asn Non-syndromic genetic deafness
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