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Details for CELSR1:p.Val392Ala

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
46931893	46535996

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Val392Ala

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
0.0001586	0.0001924	0.0004067	0.0	0.0	0.0	0.0001529	0.0008273	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.339009	Polymorphism

DBSNP ID

1 combination linked to CELSR1:p.Val392Ala

1 disease linked to CELSR1:p.Val392Ala

Hypoplastic left heart syndrome

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