Details for IFT74:c.1735G>A, p.Val579Met

CHROMOSOME 9
GENOMIC COORDINATES
hg19hg38
2706266627062668
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE IFT74
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_025103.2
CDNA CHANGE c.1735G>A
PROTEIN CHANGE p.Val579Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00240.00080.00430.00.0080.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.005490.0018230.0048980.00079675.611e-050.0081720.0078830.0065520.001728

ESP
AAEA
0.0016040.01107
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.001116Polymorphism
DBSNP ID rs138591335
1 combination linked to IFT74:c.1735G>A, p.Val579Met OLI620
1 disease linked to IFT74:c.1735G>A, p.Val579Met Bardet-Biedl syndrome
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