Details for TYR:c.346C>T, p.Arg116Ter

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
8891146789178299
VARIANT EFFECT nonsense
ANNOTATION FLAG automatically_attributed
GENE TYR
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000372.4
CDNA CHANGE c.346C>T
PROTEIN CHANGE p.Arg116Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
2.387e-050.02.891e-050.00.00016310.08.799e-060.03.266e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.78188Disease causing
DBSNP ID rs61753256
1 combination linked to TYR:c.346C>T, p.Arg116Ter OLI073
1 disease linked to TYR:c.346C>T, p.Arg116Ter Oculocutaneous albinism
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