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Details for FGFR1:c.374C>T, p.Ser125Leu

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
38285938	38428420

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.374C>T

PROTEIN CHANGE

p.Ser125Leu

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
1.223e-05	0.0	5.835e-05	0.0	5.619e-05	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.508779	Disease causing

DBSNP ID

1 combination linked to FGFR1:c.374C>T, p.Ser125Leu

1 disease linked to FGFR1:c.374C>T, p.Ser125Leu

Hypogonadotropic hypogonadism with partial puberty phenotype

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