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Details for HS6ST1:c.1144C>T, p.Arg382Trp

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
129025828	128268254

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1144C>T

PROTEIN CHANGE

p.Arg382Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.002	0.0015	0.0	0.0	0.001	0.0072

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.00188	0.0005241	0.0009001	0.003508	5.58e-05	0.0	0.0004405	0.0005007	0.01103

ESP
AA	EA
0.0007314	0.0003578

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.709116	Disease causing

DBSNP ID

1 combination linked to HS6ST1:c.1144C>T, p.Arg382Trp

1 disease linked to HS6ST1:c.1144C>T, p.Arg382Trp

Normosmic congenital hypogonadotropic hypogonadism

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