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Details for HS6ST1:c.917G>A, p.Arg306Gln

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
129026055	128268481

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.917G>A

PROTEIN CHANGE

p.Arg306Gln

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
0.0007057	0.000264	0.0005825	0.0	5.588e-05	9.397e-05	0.001175	0.001168	0.0002956

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.849744	Polymorphism

DBSNP ID

1 combination linked to HS6ST1:c.917G>A, p.Arg306Gln

1 disease linked to HS6ST1:c.917G>A, p.Arg306Gln

Non-acquired combined pituitary hormone deficiency

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