Details for FLNB:p.Arg2003His

CHROMOSOME 3
GENOMIC COORDINATES
hg19hg38
5813449658148769
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FLNB
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Arg2003His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
4.38e-050.00.00.00.00.02.643e-050.00.0002613

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging4.243282Polymorphism
DBSNP ID rs563096120
1 combination linked to FLNB:p.Arg2003His OLI298
1 disease linked to FLNB:p.Arg2003His Adolescent idiopathic scoliosis
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