Details for IFT172:c.2719G>A, p.Asp907Asn

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
2768231327459446
VARIANT EFFECT None
ANNOTATION FLAG None
GENE IFT172
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_015662.3
CDNA CHANGE c.2719G>A
PROTEIN CHANGE p.Asp907Asn
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging4.13232Polymorphism
DBSNP ID NA
1 combination linked to IFT172:c.2719G>A, p.Asp907Asn OLI1741
1 disease linked to IFT172:c.2719G>A, p.Asp907Asn Congenital hydrocephalus
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