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 (#0000405)
Patient ID	AKU_TR2_0262
Disease	AKU
Reference	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava
Remarks	Compound heterozygous
# Reported	1
Geographic origin	Poland
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_00175
Exon	04
DNA change	c.184_187dupTATA
RNA change	r.(?)
Protein	p.(arg63Ilefs*2)
Original description	R63fs
Links	-
Variant remarks	frameshift
Predicted Mutation Effect**	-
Reference	Ascher et al. (2019)
Mutation HOT-SPOT	-
Allele code	AKU_TR2_0262a
Type	duplication
Re-site	?
Frequency	-
Template	DNA
Technique	SEQ
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 #1

AKU_00004

01i

c.16-1G>A

r.(spl?)

p.(Tyr6_Gln29del)

ivs1-1G>A

rs397515347

aberrant splicing (AS)/exon skipping/in frame deletion?

Muller et al. (1999)

AKU_TR2_0262b

substitution

(-)RsaI

DNA

SEQ

intron

+/+

Parent #2

AKU_00175

c.184_187dupTATA

r.(?)

p.(arg63Ilefs*2)

R63fs

frameshift

Ascher et al. (2019)

AKU_TR2_0262a

duplication

DNA

SEQ

exon

HGD mutation database

homogentisate 1,2-dioxygenase (HGD)