Details for RIPK4:c.329C>T, p.Ser110Leu

CHROMOSOME 21
GENOMIC COORDINATES
hg19hg38
4317683041756670
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE RIPK4
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_020639.2
CDNA CHANGE c.329C>T
PROTEIN CHANGE p.Ser110Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00080.00.00.00.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
4.773e-050.00024610.09.923e-050.00.01.759e-050.00.0001633

ESP
AAEA
0.00.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign2.143964Polymorphism
DBSNP ID rs200823657
1 combination linked to RIPK4:c.329C>T, p.Ser110Leu OLI597
1 disease linked to RIPK4:c.329C>T, p.Ser110Leu Disorder of sex development
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