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Details for FLNB:c.6844G>A, p.Ala2282Thr

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
58141758	58156031

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.6844G>A

PROTEIN CHANGE

p.Ala2282Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
3.978e-06	0.0	0.0	0.0	0.0	0.0	8.795e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	2.752876	Polymorphism

DBSNP ID

1 combination linked to FLNB:c.6844G>A, p.Ala2282Thr

1 disease linked to FLNB:c.6844G>A, p.Ala2282Thr

Adolescent idiopathic scoliosis

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