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Details for ANOS1:c.563_564delAA, p.Lys188ArgfsTer15

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
8555996	8587955

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

CTT

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.563_564delAA

PROTEIN CHANGE

p.Lys188ArgfsTer15

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	4.302589	None

DBSNP ID

1 combination linked to ANOS1:c.563_564delAA, p.Lys188ArgfsTer15

1 disease linked to ANOS1:c.563_564delAA, p.Lys188ArgfsTer15

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