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 #2
Reported pathogenicity	Pathogenic
Concluded pathogenicity	Probably pathogenic
DB-ID	AKU_00167
Exon	02
DNA change	c.37G>A
RNA change	r.(?)
Protein	p.(Glu13Lys)
Original description	E13K
Links	-
Variant remarks	missense
Predicted Mutation Effect**	Hexamer disruption
Reference	Usher et al. (2015)
Mutation HOT-SPOT	-
Allele code	AKU_DB_246b
Type	substitution
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 #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)