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 (#0000132)
Patient ID	AKU_MUL_6
Disease	AKU
Reference	Muller et al. (1999), Slovakia (Slovak Republic):Bratislava
Remarks	Compound heterozygous
# Reported	1
Geographic origin	Czech republic
Patient/Affected_per_Family	1
Families Patients	1
Submitter	Andrea Zatkova

Variant data
Allele	Parent #1
Reported pathogenicity	Pathogenic
Concluded pathogenicity	Unknown
DB-ID	AKU_00000
Exon	00
DNA change	c.(?)
RNA change	r.(?)
Protein	p.(?)
Original description	unknown
Links	-
Variant remarks	unknown
Predicted Mutation Effect**	-
Reference	Muller et al. (1999)
Mutation HOT-SPOT	-
Allele code	AKU_MUL_6b
Type	unknown
Re-site	-
Frequency	-
Template	DNA
Technique	SEQ
Location	unknown

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_00000

c.(?)

r.(?)

p.(?)

unknown

Muller et al. (1999)

AKU_MUL_6b

unknown

DNA

SEQ

unknown

+/+

Parent #2

AKU_00050

c.481G>A

r.(?)

p.(Gly161Arg)

G161R

rs28941783

missense

Protomer destabilisation

Gehrig et al. (1997)

CCC triplet

AKU_MUL_6a

substitution

(-)BslI

DNA

SEQ

exon

HGD mutation database

homogentisate 1,2-dioxygenase (HGD)