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Details for HS6ST1:c.968G>A, p.Arg323Gln

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
129026004	128268430

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.968G>A

PROTEIN CHANGE

p.Arg323Gln

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
8.044e-06	0.0	0.0	0.0	0.0	0.0	8.886e-06	0.0	3.268e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.464945	Disease causing

DBSNP ID

1 combination linked to HS6ST1:c.968G>A, p.Arg323Gln

1 disease linked to HS6ST1:c.968G>A, p.Arg323Gln

Hypogonadotropic hypogonadism with absent puberty phenotype

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