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Details for FGFR1:c.350A>G, p.Asn117Ser

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
38287208	38429690

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.350A>G

PROTEIN CHANGE

p.Asn117Ser

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
6.144e-05	0.0	0.0003682	0.0	7.605e-05	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.912501	Disease causing

DBSNP ID

1 combination linked to FGFR1:c.350A>G, p.Asn117Ser

2 diseases linked to FGFR1:c.350A>G, p.Asn117Ser

Normosmic congenital hypogonadotropic hypogonadism; Isolated congenital hypogonadotropic hypogonadism

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