Details for KIF7:c.2675G>A, p.Arg892His

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
9017641589633184
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE KIF7
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_198525.2
CDNA CHANGE c.2675G>A
PROTEIN CHANGE p.Arg892His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00020850.00012778.818e-050.00.00.00024860.00029040.00067480.0001677

ESP
AAEA
0.00022730.0003489
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.04666Polymorphism
DBSNP ID rs143866575
1 combination linked to KIF7:c.2675G>A, p.Arg892His OLI640
1 disease linked to KIF7:c.2675G>A, p.Arg892His Joubert syndrome
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