This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for FGFR1:c.2172C>G, p.Asn724Lys

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
38271684	38414166

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.2172C>G

PROTEIN CHANGE

p.Asn724Lys

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	4.87689	Disease causing

DBSNP ID

2 combinations linked to FGFR1:c.2172C>G, p.Asn724Lys

OLI1394; OLI374

2 diseases linked to FGFR1:c.2172C>G, p.Asn724Lys

Normosmic congenital hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism with partial puberty phenotype

Found any issues with the data on this page? Report this entry.