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Details for FGFR1:c.1279G>T, p.Val427Leu

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
38277056	38419538

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1279G>T

PROTEIN CHANGE

p.Val427Leu

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	None	Disease causing

DBSNP ID

1 combination linked to FGFR1:c.1279G>T, p.Val427Leu

1 disease linked to FGFR1:c.1279G>T, p.Val427Leu

Hypogonadotropic hypogonadism with Fertile Eunuch phenotype

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