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Details for CELSR1:p.Asp940Asn

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
46930250	46534353

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Asp940Asn

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
8.004e-06	0.0	2.893e-05	0.0	0.0	0.0	8.879e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.925359	Polymorphism

DBSNP ID

1 combination linked to CELSR1:p.Asp940Asn

1 disease linked to CELSR1:p.Asp940Asn

Hypoplastic left heart syndrome

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