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Details for ANOS1:c.488_490delGTT, p.Cys164del

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
8565122	8597081

VARIANT EFFECT

deletion

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

GAAC

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.488_490delGTT

PROTEIN CHANGE

p.Cys164del

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	1.533817	Disease causing

DBSNP ID

1 combination linked to ANOS1:c.488_490delGTT, p.Cys164del

1 disease linked to ANOS1:c.488_490delGTT, p.Cys164del

Kallmann syndrome

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