Details for TYR:c.1205G>A, p.Arg402Gln

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
8901796189284793
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TYR
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000372.4
CDNA CHANGE c.1205G>A
PROTEIN CHANGE p.Arg402Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.08130.00910.12540.0010.25250.0542

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.17640.043840.10240.23835.439e-050.16410.27270.20750.06251

ESP
AAEA
0.050660.2812
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.150334Polymorphism
DBSNP ID rs1126809
4 combinations linked to TYR:c.1205G>A, p.Arg402Gln OLI072; OLI217; OLI398; OLI399
3 diseases linked to TYR:c.1205G>A, p.Arg402Gln Ocular albinism; Ocular albinism with congenital sensorineural deafness; Oculocutaneous albinism
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