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Details for FLNB:c.1696C>T, p.Arg566Trp

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
58090892	58105165

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1696C>T

PROTEIN CHANGE

p.Arg566Trp

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
7.954e-06	0.0	0.0	0.0	0.0	0.0	8.792e-06	0.0	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.759813	Polymorphism

DBSNP ID

1 combination linked to FLNB:c.1696C>T, p.Arg566Trp

1 disease linked to FLNB:c.1696C>T, p.Arg566Trp

Adolescent idiopathic scoliosis

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