Details for NKX2-8:c.530A>G, p.Asp177Gly

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
3705029736581092
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE NKX2-8
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_014360.4
CDNA CHANGE c.530A>G
PROTEIN CHANGE p.Asp177Gly
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
6.368e-050.00.00.00.00.07.057e-050.00.0002008

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.988367Polymorphism
DBSNP ID rs961687335
1 combination linked to NKX2-8:c.530A>G, p.Asp177Gly OLI733
1 disease linked to NKX2-8:c.530A>G, p.Asp177Gly Isolated anencephaly
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