Details for SUFU:c.1105G>A, p.Val369Ile

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
104375107102615350
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SUFU
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_016169.3
CDNA CHANGE c.1105G>A
PROTEIN CHANGE p.Val369Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
9.146e-056.152e-055.782e-050.00.00070680.06.153e-050.00.0

ESP
AAEA
0.0002270.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.291911Polymorphism
DBSNP ID rs149449923
1 combination linked to SUFU:c.1105G>A, p.Val369Ile OLI336
1 disease linked to SUFU:c.1105G>A, p.Val369Ile Isolated Klippel-Feil syndrome
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