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Details for GPR50:c.17C>A, p.Ala6Glu

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
150345210	151176738

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.17C>A

PROTEIN CHANGE

p.Ala6Glu

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	2.094126	Polymorphism

DBSNP ID

1 combination linked to GPR50:c.17C>A, p.Ala6Glu

1 disease linked to GPR50:c.17C>A, p.Ala6Glu

Isolated spina bifida

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