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Details for CELSR2:c.3522C>G, p.Asp1174Glu

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
109801265	109258643

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.3522C>G

PROTEIN CHANGE

p.Asp1174Glu

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
4.406e-05	0.0	0.0	0.0	0.0	0.0	0.0001125	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.918157	Disease causing

DBSNP ID

1 combination linked to CELSR2:c.3522C>G, p.Asp1174Glu

1 disease linked to CELSR2:c.3522C>G, p.Asp1174Glu

Craniorachischisis

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