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 (#0000207)
Patient ID	AKU_VIL_54
Disease	AKU
Reference	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava
Remarks	Compound heterozygous
# Reported	1
Geographic origin	USA
Patient/Affected_per_Family	1
Families Patients	1
Submitter	Andrea Zatkova

Variant data
Allele	Parent #1
Reported pathogenicity	Pathogenic
Concluded pathogenicity	Pathogenic
DB-ID	AKU_00024
Exon	05i
DNA change	c.342+1G>T
RNA change	r.(spl?)
Protein	p.(Leu95_Ser114del)
Original description	ivs5+1G>T
Links	rs397515518
Variant remarks	aberrant splicing (DS)/exon skipping/in frame deletion?
Predicted Mutation Effect**	-
Reference	de Bernabe et al. (1998)
Mutation HOT-SPOT	c.342+1G
Allele code	AKU_VIL_54a
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 #1

AKU_00024

05i

c.342+1G>T

r.(spl?)

p.(Leu95_Ser114del)

ivs5+1G>T

rs397515518

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

de Bernabe et al. (1998)

c.342+1G

AKU_VIL_54a

substitution

DNA

SEQ

intron

+/+

Parent #2

AKU_00097

c.1102A>G

r.(?)

p.(Met368Val)

M368V

rs120074173

missense

Hexamer disruption

de Bernabe et al. (1998)

AKU_VIL_54b

substitution

(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI

DNA

SEQ

exon

HGD mutation database

homogentisate 1,2-dioxygenase (HGD)