Variants - HGD mutation database - Leiden Open Variation Database

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 (#0000430)
Patient ID	AKU_TR2_0115
Disease	AKU
Reference	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava
Remarks	Compound heterozygous
# Reported	1
Geographic origin	Netherland
Patient/Affected_per_Family	1
Families Patients	1
Submitter	Andrea Zatkova

Variant data
Allele	Parent #2
Reported pathogenicity	Pathogenic
Concluded pathogenicity	Pathogenic
DB-ID	AKU_00197
Exon	05_06
DNA change	c.283-9199_c.434+1688del
RNA change	r.(?)
Protein	p.(Leu95Metfs*33)
Original description	ex5,6 del
Links	-
Variant remarks	deletion
Predicted Mutation Effect**	-
Reference	Ascher et al. (2019)
Mutation HOT-SPOT	CpG
Allele code	AKU_TR2_0115b
Type	deletion
Re-site	-
Frequency	-
Template	DNA
Technique	SEQ, MLPA
Location	exon

2 entries 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 #2

AKU_00197

05_06

c.283-9199_c.434+1688del

r.(?)

p.(Leu95Metfs*33)

ex5,6 del

deletion

Ascher et al. (2019)

CpG

AKU_TR2_0115b

deletion

DNA

SEQ, MLPA

exon

+/+

Parent #1

AKU_00071

c.674G>A

r.(?)

p.(Arg225His)

R225H

rs562853291

missense

Hexamer disruption

de Bernabe et al. (1998)

CpG

AKU_TR2_0115a

substitution

(+)NlaIII; (-)BssSI

DNA

SEQ

exon

HGD mutation database

homogentisate 1,2-dioxygenase (HGD)