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Details for B4GAT1:c.152C>T, p.Pro51Leu

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
66114865	66347394

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.152C>T

PROTEIN CHANGE

p.Pro51Leu

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
0.0002865	0.0	0.0	0.0	0.002537	0.0002232	0.0001074	0.0003858	0.0001169

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.612217	Polymorphism

DBSNP ID

3 combinations linked to B4GAT1:c.152C>T, p.Pro51Leu

OLI861; OLI904; OLI908

2 diseases linked to B4GAT1:c.152C>T, p.Pro51Leu

Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome

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