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Details for GPM6B:c.555C>G, p.Ile185Met

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
13797959	13779840

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.555C>G

PROTEIN CHANGE

p.Ile185Met

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
2.217e-05	0.0	0.0	0.0	0.0002919	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.372795	Polymorphism

DBSNP ID

1 combination linked to GPM6B:c.555C>G, p.Ile185Met

1 disease linked to GPM6B:c.555C>G, p.Ile185Met

Major depressive disorder

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