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Details for FGF8:c.159_164del, p.Thr54_Val55del

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
103534669	101774912

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

ACAGTTAC

ALTERNATE ALLELE

AC

TRANSCRIPT

N.A.

CDNA CHANGE

c.159_164del

PROTEIN CHANGE

p.Thr54_Val55del

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	None	None

DBSNP ID

1 combination linked to FGF8:c.159_164del, p.Thr54_Val55del

1 disease linked to FGF8:c.159_164del, p.Thr54_Val55del

Hypogonadotropic hypogonadism with absent puberty phenotype

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