Details for TYR:c.1467dup, p.Ala490CysfsTer20

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
8902841089295242
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_corrected
GENE TYR
REFERENCE ALLELE C
ALTERNATE ALLELE CT
TRANSCRIPT NM_000372.5
CDNA CHANGE c.1467dup
PROTEIN CHANGE p.Ala490CysfsTer20
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00017920.00018520.00052050.00.00.00.00020280.00016330.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone3.422306Disease causing
DBSNP ID rs61754399
1 combination linked to TYR:c.1467dup, p.Ala490CysfsTer20 OLI217
1 disease linked to TYR:c.1467dup, p.Ala490CysfsTer20 Ocular albinism
Found any issues with the data on this page? Report this entry.