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Details for CELSR3:c.9827C>T, p.Pro3276Leu

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
48677191	48639758

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.9827C>T

PROTEIN CHANGE

p.Pro3276Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0036	0.0	0.0144	0.0	0.006	0.002

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.008122	0.0009281	0.00642	0.04775	0.0	0.003604	0.008563	0.01507	0.005946

ESP
AA	EA
0.001362	0.008721

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.684674	Polymorphism

DBSNP ID

2 combinations linked to CELSR3:c.9827C>T, p.Pro3276Leu

1 disease linked to CELSR3:c.9827C>T, p.Pro3276Leu

Isolated anencephaly

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