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Details for HS6ST1:p.Pro242Leu

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
129026247	128268673

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Pro242Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.001	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001662	6.82e-05	0.0001451	0.0	0.001171	9.304e-05	3.584e-05	0.0003327	0.0001961

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.120499	Polymorphism

DBSNP ID

1 combination linked to HS6ST1:p.Pro242Leu

1 disease linked to HS6ST1:p.Pro242Leu

Kallmann syndrome

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