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Details for ANOS1:c.1887_1888del, p.Tyr630ProfsTer36

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
8502457	8534416

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

AAA

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1887_1888del

PROTEIN CHANGE

p.Tyr630ProfsTer36

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 ANOS1:c.1887_1888del, p.Tyr630ProfsTer36

1 disease linked to ANOS1:c.1887_1888del, p.Tyr630ProfsTer36

Hypogonadotropic hypogonadism with absent puberty phenotype

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