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Details for CELSR1:c.2305C>T, p.Arg769Trp

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
46930763	46534866

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2305C>T

PROTEIN CHANGE

p.Arg769Trp

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
0.0001281	0.0	0.0	9.972e-05	0.0005442	0.0	0.0001774	0.0001637	0.0

ESP
AA	EA
0.0	0.0002326

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.869651	Polymorphism

DBSNP ID

1 combination linked to CELSR1:c.2305C>T, p.Arg769Trp

1 disease linked to CELSR1:c.2305C>T, p.Arg769Trp

Isolated spina bifida

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