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Details for CELSR1:c.7489C>T, p.Arg2497Cys

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
46773053	46377156

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.7489C>T

PROTEIN CHANGE

p.Arg2497Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001237	6.184e-05	0.0	0.0	0.0001088	0.0	0.0002388	0.0	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.974817	Disease causing

DBSNP ID

1 combination linked to CELSR1:c.7489C>T, p.Arg2497Cys

1 disease linked to CELSR1:c.7489C>T, p.Arg2497Cys

Familial bicuspid aortic valve

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