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Details for FGF8:c.298A>G, p.Lys100Glu

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
103534528	101774771

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.298A>G

PROTEIN CHANGE

p.Lys100Glu

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	Benign	3.431721	Disease causing

DBSNP ID

1 combination linked to FGF8:c.298A>G, p.Lys100Glu

1 disease linked to FGF8:c.298A>G, p.Lys100Glu

Normosmic congenital hypogonadotropic hypogonadism

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