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Details for ANOS1:p.Arg423Ter

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
8522080	8554039

VARIANT EFFECT

nonsense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Arg423Ter

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	5.235575	Disease causing

DBSNP ID

1 combination linked to ANOS1:p.Arg423Ter

1 disease linked to ANOS1:p.Arg423Ter

Kallmann syndrome

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