Details for FBN1:c.3455C>T, p.Ala1152Val

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4877951748487320
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FBN1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000138.4
CDNA CHANGE c.3455C>T
PROTEIN CHANGE p.Ala1152Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
2.784e-050.05.782e-050.00.00.03.516e-050.00016290.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.296043Disease causing
DBSNP ID rs539103389
1 combination linked to FBN1:c.3455C>T, p.Ala1152Val OLI297
1 disease linked to FBN1:c.3455C>T, p.Ala1152Val Adolescent idiopathic scoliosis
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