Variants - HGD mutation database - Leiden Open Variation Database

HGD mutation database

homogentisate 1,2-dioxygenase (HGD)

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Curator: Dr. Andrea Zatkova (andrea.zatkova@savba.sk)

About this overview [Show]
This detailed view shows all details of the selected patient, including all variants reported in this patient. At the bottom of the page, all variants reported in this patient are listed, with the one you are looking at in bold. The link to the UCSC Genome Browser will show the browser zoomed in to the location of the selected variant.

Patient data (#0000260)
Patient ID	AKU_POL_22
Disease	-
Reference	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava
Remarks	-
# Reported	1
Geographic origin	-
Patient/Affected_per_Family	1
Families Patients	1
Submitter	Andrea Zatkova

Variant data
Allele	Parent #1
Reported pathogenicity	Probably no pathogenicity
Concluded pathogenicity	Unknown
DB-ID	AKU_00128
Exon	03i
DNA change	c.176+114T>A
RNA change	r.(?)
Protein	p.(?)
Original description	ivs3+114T>A
Links	-
Variant remarks	polymorphism
Predicted Mutation Effect**	-
Reference	Vilboux et al. (2009)
Mutation HOT-SPOT	-
Allele code	AKU_POL_22
Type	substitution
Re-site	-
Frequency	0,013(A)
Template	DNA
Technique	SEQ
Location	intron

1 entry in HGD

Path.

Allele

DB-ID

Exon

DNA change

RNA change

Protein

Original description

Links

Variant remarks

Predicted Mutation Effect**

Reference

Mutation HOT-SPOT

Allele code

Type

Re-site

Frequency

Template

Technique

Location

-?/?

Parent #1

AKU_00128

03i

r.(?)

p.(?)

ivs3+114T>A

-

polymorphism

-

Vilboux et al. (2009)

-

AKU_POL_22

substitution

-

0,013(A)

DNA

SEQ

intron