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Details for FGFR1:c.1306_1307dupTC, p.Met437fs

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
38274906	38417388

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

GTC

TRANSCRIPT

N.A.

CDNA CHANGE

c.1306_1307dupTC

PROTEIN CHANGE

p.Met437fs

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
None	None	4.971435	Disease causing

DBSNP ID

1 combination linked to FGFR1:c.1306_1307dupTC, p.Met437fs

1 disease linked to FGFR1:c.1306_1307dupTC, p.Met437fs

Normosmic congenital hypogonadotropic hypogonadism

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