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Details for FGF8:c.118T>C, p.Phe40Leu

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
103534925	101775168

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.118T>C

PROTEIN CHANGE

p.Phe40Leu

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
Tolerated	Benign	1.011693	Disease causing

DBSNP ID

2 combinations linked to FGF8:c.118T>C, p.Phe40Leu

2 diseases linked to FGF8:c.118T>C, p.Phe40Leu

Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome

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