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Details for CELSR2:c.3800A>G, p.His1267Arg

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
109801543	109258921

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.3800A>G

PROTEIN CHANGE

p.His1267Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0062	0.0023	0.0173	0.0	0.0139	0.002

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.007851	0.003392	0.009805	0.001923	0.0	0.003911	0.01183	0.0138	0.00161

ESP
AA	EA
0.003635	0.01059

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.032615	Disease causing

DBSNP ID

5 combinations linked to CELSR2:c.3800A>G, p.His1267Arg

OLI699; OLI701; OLI720; OLI736; OLI746

1 disease linked to CELSR2:c.3800A>G, p.His1267Arg

Isolated anencephaly

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