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Details for CELSR1:c.6362G>A, p.Arg2121His

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
46785380	46389483

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.6362G>A

PROTEIN CHANGE

p.Arg2121His

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
2.41e-05	0.0	2.895e-05	0.0	0.0	0.0	4.473e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.888686	Polymorphism

DBSNP ID

1 combination linked to CELSR1:c.6362G>A, p.Arg2121His

1 disease linked to CELSR1:c.6362G>A, p.Arg2121His

Isolated anencephaly

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