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Details for FGFR1:c.165_171dup, p.Arg58SerfsTer55

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
38287386	38429868

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

GCAGCCGA

TRANSCRIPT

CDNA CHANGE

c.165_171dup

PROTEIN CHANGE

p.Arg58SerfsTer55

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	3.573646	Disease causing

DBSNP ID

1 combination linked to FGFR1:c.165_171dup, p.Arg58SerfsTer55

1 disease linked to FGFR1:c.165_171dup, p.Arg58SerfsTer55

Normosmic congenital hypogonadotropic hypogonadism

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