ERCC5, 1-BP DEL, 2170A

ERCC5, 1-BP DEL, 2170A

Variant type:
Deletion
Cytogenetic location:
13q33
Other names:
  • 1-BP DEL, 2170A
Links:
OMIM: 133530.0004

Clinical significance

ERCC5, 1-BP DEL, 2170A

Clinical significance:
Pathogenic
Review status:
(0/4)0 stars out of maximum of 4 stars
no assertion criteria provided
Number of submission(s):
1
Condition(s)
  • Xeroderma pigmentosum group g/Cockayne syndrome[MedGen]
See supporting ClinVar records

1 Affected gene

Recent activity

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
Pathogenic
(Apr 5, 2013)
no assertion criteria providedliterature only
  • Xeroderma pigmentosum group g/Cockayne syndrome[MedGen]
germlinePubMed (2)
[See all records that cite these PMIDs]
OMIM

(Dec 30, 2010)

SCV000038316
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providedPubMednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
OMIMgermlinenot providedXeroderma pigmentosum group g/Cockayne syndrome (not provided)not providednot providedPubMedIn a Flemish girl with XPG/Cockayne syndrome (see 278780), Nouspikel et al. (1997) identified a homozygous 1-bp deletion within an AAA triplet at nucl…Full description

Last Updated: Jul 1, 2015