Details for IFT172:c.3824G>T, p.Gly1275Val

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
2767637827453511
VARIANT EFFECT None
ANNOTATION FLAG None
GENE IFT172
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_015662.1
CDNA CHANGE c.3824G>T
PROTEIN CHANGE p.Gly1275Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.00.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
2.387e-050.00.00.00.00.00.00.00.000196

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign3.10174Disease causing
DBSNP ID NA
1 combination linked to IFT172:c.3824G>T, p.Gly1275Val OLI1654
1 disease linked to IFT172:c.3824G>T, p.Gly1275Val Bardet-Biedl syndrome
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