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Details for ANOS1:c.1524delA, p.Ser509ValfsTer40

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
8504907	8536866

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

CT

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.1524delA

PROTEIN CHANGE

p.Ser509ValfsTer40

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	2.574395	None

DBSNP ID

1 combination linked to ANOS1:c.1524delA, p.Ser509ValfsTer40

1 disease linked to ANOS1:c.1524delA, p.Ser509ValfsTer40

Normosmic congenital hypogonadotropic hypogonadism

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