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 (#0000329)
Patient ID	AKU_DB_170
Disease	AKU
Reference	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava
Remarks	Compound heterozygous
# Reported	1
Geographic origin	Italy
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_00044
Exon	07i
DNA change	c.469+2T>C
RNA change	r.(spl?)
Protein	p.(Arg145Serfs*22)
Original description	ivs7+2T>C
Links	rs745333667
Variant remarks	aberrant splicing (DS)/exon skipping/frameshift?
Predicted Mutation Effect**	-
Reference	Phornphutkul et al. (2002)
Mutation HOT-SPOT	-
Allele code	AKU_DB_170a
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 #2

AKU_00044

07i

c.469+2T>C

r.(spl?)

p.(Arg145Serfs*22)

ivs7+2T>C

rs745333667

aberrant splicing (DS)/exon skipping/frameshift?

Phornphutkul et al. (2002)

AKU_DB_170a

substitution

DNA

SEQ

intron

+/?

Parent #2

AKU_00196

c.1007-1709_1188+1121del

r.(?)

p.(Arg336Serfs*5)

ex13 del

deletion

Ascher et al. (2019)

AKU_DB_170a

deletion

DNA

SEQ, MLPA

intron/exon

HGD mutation database

homogentisate 1,2-dioxygenase (HGD)