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Details for FGF8:c.98G>T, p.Gly33Val

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
103534945	101775188

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.98G>T

PROTEIN CHANGE

p.Gly33Val

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
2.708e-05	0.0	0.0	0.0	0.0	0.0	5.434e-05	0.0002373	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	1.986115	Polymorphism

DBSNP ID

1 combination linked to FGF8:c.98G>T, p.Gly33Val

1 disease linked to FGF8:c.98G>T, p.Gly33Val

Kallmann syndrome

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