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Details for SPTBN1:c.155G>A, p.Arg52His

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
54826235	54599098

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.155G>A

PROTEIN CHANGE

p.Arg52His

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
3.98e-06	0.0	0.0	0.0	0.0	0.0	8.802e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.450275	Disease causing

DBSNP ID

1 combination linked to SPTBN1:c.155G>A, p.Arg52His

1 disease linked to SPTBN1:c.155G>A, p.Arg52His

Familial bicuspid aortic valve

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