Details for TYR:c.1037-7T>A,

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
8896098489227816
VARIANT EFFECT splicing
ANNOTATION FLAG automatically_attributed_and_verified
GENE TYR
REFERENCE ALLELE T
ALTERNATE ALLELE A
TRANSCRIPT NM_000372.4
CDNA CHANGE c.1037-7T>A
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00.00430.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00094976.16e-050.00043660.015240.00027314.802e-050.00037990.00286.551e-05

ESP
AAEA
0.00022720.001047
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone1.880702Disease causing
DBSNP ID rs61754381
1 combination linked to TYR:c.1037-7T>A, OLI220
1 disease linked to TYR:c.1037-7T>A, Ocular albinism
Found any issues with the data on this page? Report this entry.