Details for TYR:c.230G>A, p.Arg77Gln

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
8891135189178183
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE TYR
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000372.4
CDNA CHANGE c.230G>A
PROTEIN CHANGE p.Arg77Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.0010.00.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
8.366e-050.02.895e-050.00.0001094.622e-050.00012340.09.806e-05

ESP
AAEA
0.00.0003489
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.314417Disease causing
DBSNP ID rs61753185
1 combination linked to TYR:c.230G>A, p.Arg77Gln OLI069
1 disease linked to TYR:c.230G>A, p.Arg77Gln Oculocutaneous albinism
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