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Details for ANOS1:p.Ser396Leu

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
8536293	8568252

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Ser396Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0005	0.0	0.0038	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002917	0.0	0.0003658	0.004029	7.254e-05	6.303e-05	8.655e-05	0.0004446	0.0001064

ESP
AA	EA
0.0	0.0001486

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	1.647021	Disease causing

DBSNP ID

2 combinations linked to ANOS1:p.Ser396Leu

1 disease linked to ANOS1:p.Ser396Leu

Kallmann syndrome

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