Details for RIPK4:c.1885G>A, p.Asp629Asn

CHROMOSOME 21
GENOMIC COORDINATES
hg19hg38
4316146841741308
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE RIPK4
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_020639.2
CDNA CHANGE c.1885G>A
PROTEIN CHANGE p.Asp629Asn
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00080.00.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
4.103e-056.326e-052.904e-050.00010035.55e-050.05.428e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging1.98297Polymorphism
DBSNP ID rs199669994
1 combination linked to RIPK4:c.1885G>A, p.Asp629Asn OLI597
1 disease linked to RIPK4:c.1885G>A, p.Asp629Asn Disorder of sex development
Found any issues with the data on this page? Report this entry.