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Details for HS6ST1:c.652C>T, p.Pro218Ser

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
129026320	128268746

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.652C>T

PROTEIN CHANGE

p.Pro218Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.001	0.0	0.0	0.0	0.005	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001828	0.0003904	0.0009273	0.002888	0.0	0.001113	0.003134	0.00182	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	2.631296	Disease causing

DBSNP ID

3 combinations linked to HS6ST1:c.652C>T, p.Pro218Ser

OLI1266; OLI1600; OLI1605

2 diseases linked to HS6ST1:c.652C>T, p.Pro218Ser

Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome

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