Details for EYA1:c.890G>A, p.Arg297Gln

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
7218406971271834
VARIANT EFFECT None
ANNOTATION FLAG None
GENE EYA1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_172058.4
CDNA CHANGE c.890G>A
PROTEIN CHANGE p.Arg297Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.0020.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00015516.152e-050.00.00.0017940.08.792e-060.00032586.533e-05

ESP
AAEA
0.0002270.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging4.291056Polymorphism
DBSNP ID rs148647933
1 combination linked to EYA1:c.890G>A, p.Arg297Gln OLI1090
1 disease linked to EYA1:c.890G>A, p.Arg297Gln Congenital hypothyroidism
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