Details for FLNB:c.3430G>C, p.Glu1144Gln

CHROMOSOME 3
GENOMIC COORDINATES
hg19hg38
5810912358123396
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FLNB
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_001457.3
CDNA CHANGE c.3430G>C
PROTEIN CHANGE p.Glu1144Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00140.00.00.0060.00.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00055296.153e-050.00.00.0072310.00.00.00.0001633

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign1.705482Polymorphism
DBSNP ID rs199959926
1 combination linked to FLNB:c.3430G>C, p.Glu1144Gln OLI296
1 disease linked to FLNB:c.3430G>C, p.Glu1144Gln Adolescent idiopathic scoliosis
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