Details for EYA1:c.1082G>A, p.Arg361Gln

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
7215689671244661
VARIANT EFFECT None
ANNOTATION FLAG None
GENE EYA1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_172058.4
CDNA CHANGE c.1082G>A
PROTEIN CHANGE p.Arg361Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
4.398e-050.00.00.00.00060140.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign3.199512Polymorphism
DBSNP ID rs145219836
1 combination linked to EYA1:c.1082G>A, p.Arg361Gln OLI1089
1 disease linked to EYA1:c.1082G>A, p.Arg361Gln Congenital hypothyroidism
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