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Details for FGFR1:c.156G>C, p.Gln52His

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
38287402	38429884

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.156G>C

PROTEIN CHANGE

p.Gln52His

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
3.999e-06	0.0	0.0	0.0	0.0	0.0	8.845e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.605514	Disease causing

DBSNP ID

1 combination linked to FGFR1:c.156G>C, p.Gln52His

1 disease linked to FGFR1:c.156G>C, p.Gln52His

Normosmic congenital hypogonadotropic hypogonadism

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