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Details for HS6ST1:c.1177G>A, p.Asp393Asn

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
129025795	128268221

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1177G>A

PROTEIN CHANGE

p.Asp393Asn

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.0	0.0	0.002	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002386	0.0	8.731e-05	0.0	0.01218	0.01394	0.0003808	0.0008423	0.0006877

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.812059	Polymorphism

DBSNP ID

2 combinations linked to HS6ST1:c.1177G>A, p.Asp393Asn

OLI1346; OLI1354

2 diseases linked to HS6ST1:c.1177G>A, p.Asp393Asn

Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome

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