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Details for CELSR1:c.3169C>T, p.Arg1057Cys

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
46929899	46534002

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.3169C>T

PROTEIN CHANGE

p.Arg1057Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0015	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
8.376e-05	0.0007424	0.0	0.0	0.000272	0.0	1.766e-05	0.0001633	3.267e-05

ESP
AA	EA
0.001362	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.825758	Polymorphism

DBSNP ID

1 combination linked to CELSR1:c.3169C>T, p.Arg1057Cys

1 disease linked to CELSR1:c.3169C>T, p.Arg1057Cys

Isolated spina bifida

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