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Details for FGFR1:c.2248delG, p.Glu750LysfsTer9

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
38271473	38413955

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

TC

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2248delG

PROTEIN CHANGE

p.Glu750LysfsTer9

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	4.929658	Disease causing

DBSNP ID

1 combination linked to FGFR1:c.2248delG, p.Glu750LysfsTer9

1 disease linked to FGFR1:c.2248delG, p.Glu750LysfsTer9

Normosmic congenital hypogonadotropic hypogonadism

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