Details for IFT122:c.1453G>A, p.Gly485Ser

CHROMOSOME 3
GENOMIC COORDINATES
hg19hg38
129202460129483617
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE IFT122
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_052990.3
CDNA CHANGE c.1453G>A
PROTEIN CHANGE p.Gly485Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
2.009e-050.00.00.00.00016520.01.781e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign4.125061Disease causing
DBSNP ID rs533241476
1 combination linked to IFT122:c.1453G>A, p.Gly485Ser OLI295
1 disease linked to IFT122:c.1453G>A, p.Gly485Ser Adolescent idiopathic scoliosis
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