Details for TYR:c.832C>T, p.Arg278Ter

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
8892438289191214
VARIANT EFFECT nonsense
ANNOTATION FLAG automatically_attributed
GENE TYR
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000372.4
CDNA CHANGE c.832C>T
PROTEIN CHANGE p.Arg278Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00018720.00012312.9e-050.00.00016320.01.761e-050.00.001274

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone7.692934Disease causing
DBSNP ID rs62645904
2 combinations linked to TYR:c.832C>T, p.Arg278Ter OLI070; OLI1099
1 disease linked to TYR:c.832C>T, p.Arg278Ter Oculocutaneous albinism
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