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 (#0000443)
Patient ID	AKU_DB_246
Disease	AKU
Reference	Ascher et al. (2019), 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 #1
Reported pathogenicity	Probably no pathogenicity
Concluded pathogenicity	Unknown
DB-ID	AKU_00067
Exon	09i
DNA change	c.650-56G>A
RNA change	r.(spl?)
Protein	p.(?)
Original description	ivs9-56G>A
Links	-
Variant remarks	aberrant splicing (AS)/exon skipping
Predicted Mutation Effect**	-
Reference	de Bernabe et al. (1998)
Mutation HOT-SPOT	CCC triplet
Allele code	AKU_DB_246a
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_00167

c.37G>A

r.(?)

p.(Glu13Lys)

E13K

missense

Hexamer disruption

Usher et al. (2015)

AKU_DB_246b

substitution

DNA

SEQ

exon

-?/?

Parent #1

AKU_00067

09i

c.650-56G>A

r.(spl?)

p.(?)

ivs9-56G>A

aberrant splicing (AS)/exon skipping

de Bernabe et al. (1998)

CCC triplet

AKU_DB_246a

substitution

DNA

SEQ

intron

HGD mutation database

homogentisate 1,2-dioxygenase (HGD)