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Details for PRICKLE2:c.445G>T, p.Ala149Ser

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
64142993	64157317

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.445G>T

PROTEIN CHANGE

p.Ala149Ser

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
0.0002479	6.185e-05	0.0	0.0	0.0	9.247e-05	0.0004974	0.0003269	3.267e-05

ESP
AA	EA
0.0	0.0009302

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.006867	Polymorphism

DBSNP ID

1 combination linked to PRICKLE2:c.445G>T, p.Ala149Ser

1 disease linked to PRICKLE2:c.445G>T, p.Ala149Ser

Craniorachischisis

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