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Details for CELSR3:c.5587C>T, p.Arg1863Trp

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
48690482	48653049

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.5587C>T

PROTEIN CHANGE

p.Arg1863Trp

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
0.0001437	0.0	2.892e-05	0.0	5.442e-05	0.0	0.0002919	0.0001635	0.0

ESP
AA	EA
0.0	0.0002326

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	4.225987	Polymorphism

DBSNP ID

1 combination linked to CELSR3:c.5587C>T, p.Arg1863Trp

1 disease linked to CELSR3:c.5587C>T, p.Arg1863Trp

Isolated anencephaly

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