Details for ALX1:c.182A>G, p.His61Arg

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
8567422185280443
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE ALX1
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_006982.2
CDNA CHANGE c.182A>G
PROTEIN CHANGE p.His61Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00480.00.00430.00.01690.0041

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0075260.0017430.0048320.017310.00.0027730.011260.0098170.004051

ESP
AAEA
0.002270.01105
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign2.988145Polymorphism
DBSNP ID rs115440539
2 combinations linked to ALX1:c.182A>G, p.His61Arg OLI713; OLI744
1 disease linked to ALX1:c.182A>G, p.His61Arg Isolated anencephaly
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