Details for IFT172:p.Ala961Val

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
2768108627458219
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE IFT172
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Ala961Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.194e-050.02.891e-050.05.437e-050.08.799e-060.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.102812Polymorphism
DBSNP ID rs769578794
1 combination linked to IFT172:p.Ala961Val OLI685
1 disease linked to IFT172:p.Ala961Val Holoprosencephaly
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