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 (#0000410)
Patient ID	AKU_TR2_0102
Disease	AKU
Reference	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava
Remarks	Compound heterozygous
# Reported	1
Geographic origin	Romania
Patient/Affected_per_Family	1
Families Patients	1
Submitter	Andrea Zatkova

Variant data
Allele	Parent #1
Reported pathogenicity	Pathogenic
Concluded pathogenicity	Pathogenic
DB-ID	AKU_00180
Exon	08i
DNA change	c.550-2A>G
RNA change	r.(?)
Protein	p.(Arg184Glyfs*12)
Original description	ivs8-2A>G
Links	-
Variant remarks	aberrant splicing (AS)/exon skipping/frameshift?
Predicted Mutation Effect**	-
Reference	submitted
Mutation HOT-SPOT	-
Allele code	AKU_TR2_0102a
Type	substitution
Re-site	?
Frequency	-
Template	DNA
Technique	SEQ
Location	intron

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 #1

AKU_00265

c.54T>A

r.(?)

p.(Asp18Glu)

D18E

missense

Protomer destabilisation, Hexamer disruption

Ascher et al. (2019)

AKU_TR2_0102b

substitution

DNA

SEQ

exon

+/+

Parent #1

AKU_00180

08i

c.550-2A>G

r.(?)

p.(Arg184Glyfs*12)

ivs8-2A>G

aberrant splicing (AS)/exon skipping/frameshift?

submitted

AKU_TR2_0102a

substitution

DNA

SEQ

intron

HGD mutation database

homogentisate 1,2-dioxygenase (HGD)