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Details for CELSR1:p.Thr2568Met

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
46768836	46372939

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Thr2568Met

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
7.998e-06	0.0	5.797e-05	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	1.607502	Polymorphism

DBSNP ID

1 combination linked to CELSR1:p.Thr2568Met

1 disease linked to CELSR1:p.Thr2568Met

Hypoplastic left heart syndrome

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