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 (#0000273)
Patient ID	AKU_POL_34
Disease	-
Reference	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava
Remarks	-
# Reported	1
Geographic origin	-
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_00140
Exon	13
DNA change	c.1008dupG
RNA change	r.(?)
Protein	p.(Asn337Glufs*5)
Original description	N337fs
Links	rs35952153
Variant remarks	frameshift/splice acceptor site
Predicted Mutation Effect**	-
Reference	Vilboux et al. (2009)
Mutation HOT-SPOT	CCC triplet
Allele code	AKU_POL_34?
Type	insertion
Re-site	-
Frequency	-
Template	DNA
Technique	SEQ
Location	exon

1 entry 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_00140

r.(?)

p.(Asn337Glufs*5)

N337fs

frameshift/splice acceptor site

CCC triplet

AKU_POL_34?

insertion

DNA

SEQ

exon

HGD mutation database