Details for PAX6:c.1166C>A, p.Pro389Gln

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
3181231731790769
VARIANT EFFECT missense
ANNOTATION FLAG manually_corrected
GENE PAX6
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT NM_001258462.1
CDNA CHANGE c.1166C>A
PROTEIN CHANGE p.Pro389Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00025890.02.892e-050.00.00032630.04.406e-050.00016310.001699

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging3.434321Disease causing
DBSNP ID rs200015827
1 combination linked to PAX6:c.1166C>A, p.Pro389Gln OLI885
1 disease linked to PAX6:c.1166C>A, p.Pro389Gln Kallmann syndrome
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