Details for PAX6:c.556_564delCCTACGCAA, p.Pro186_Gln188del

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
3182223931800691
VARIANT EFFECT deletion
ANNOTATION FLAG manually_attributed
GENE PAX6
REFERENCE ALLELE CTTGCGTAGG
ALTERNATE ALLELE C
TRANSCRIPT NM_001258462.1
CDNA CHANGE c.556_564delCCTACGCAA
PROTEIN CHANGE p.Pro186_Gln188del
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
4.378e-050.00.00.00.0005980.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone2.208394Disease causing
DBSNP ID rs747077748
1 combination linked to PAX6:c.556_564delCCTACGCAA, p.Pro186_Gln188del OLI887
1 disease linked to PAX6:c.556_564delCCTACGCAA, p.Pro186_Gln188del Kallmann syndrome
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