Variants - The Globin Gene Server - Leiden Open Variation Database

The Globin Gene Server

excision repair cross-complementing rodent repair deficiency, complementati (ERCC2)

LOVD v.2.0 Build 38 [ Current LOVD status ]
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Curators: Belinda Giardine and Joseph Borg

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 (#0001842)
Disease	-
Reference	Broughton et al., 1994 SwissVar VAR_003626
Template	DNA
Technique	PCR
Remarks	-
# Reported	1
Ethnic origin	-
Disease Mesh ID	-
Geographic origin	-

Variant data
Allele	Unknown
Reported pathogenicity	Pathogenic
Concluded pathogenicity	Pathogenic
Exon	-
DNA change	NM_000400.3:c.1847G>C (View in UCSC Genome Browser, Ensembl)
RNA change	-
Protein	-
Re-site	-
Frequency	-
DB-ID	ERCC2_00005

1 entry in ERCC2

Path.

Allele

Exon

DNA change

RNA change

Protein

Re-site

Frequency

DB-ID

+/+

Unknown

-

NM_000400.3:c.1847G>C

-

-

-

-

ERCC2_00005