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Details for HS6ST1:c.199A>T, p.Lys67Ter

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
129075939	128318365

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.199A>T

PROTEIN CHANGE

p.Lys67Ter

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
0.006245	0.002592	0.005312	0.005221	5.595e-05	0.006343	0.008668	0.008766	0.004082

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	7.497261	Disease causing

DBSNP ID

1 combination linked to HS6ST1:c.199A>T, p.Lys67Ter

1 disease linked to HS6ST1:c.199A>T, p.Lys67Ter

Kallmann syndrome

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