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NM_000124.4(ERCC6):c.543+4del AND Cockayne syndrome type 2

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000132720.1

Allele description [Variation Report for NM_000124.4(ERCC6):c.543+4del]

NM_000124.4(ERCC6):c.543+4del

Gene:
ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
10q11.23
Genomic location:
Preferred name:
NM_000124.4(ERCC6):c.543+4del
HGVS:
  • NC_000010.11:g.49530716del
  • NG_009442.1:g.13386del
  • NM_000124.4:c.543+4delMANE SELECT
  • NM_001277058.2:c.543+4del
  • NM_001277059.2:c.543+4del
  • NM_001346440.2:c.543+4del
  • LRG_465:g.13386del
  • NC_000010.10:g.50738762del
  • NM_000124.3:c.543+4del
  • NM_000124.3:c.543+4delA
Links:
dbSNP: rs527236039
NCBI 1000 Genomes Browser:
rs527236039
Molecular consequence:
  • NM_000124.4:c.543+4del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001277058.2:c.543+4del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001277059.2:c.543+4del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001346440.2:c.543+4del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Cockayne syndrome type 2
Synonyms:
Cockayne syndrome B; Cockayne syndrome type 2; Cockayne Syndrome, Type II
Identifiers:
MONDO: MONDO:0019570; MedGen: C0751038; Orphanet: 191; OMIM: 133540

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000187649Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health
no assertion criteria provided
pathogenicinheritednot provided

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health, SCV000187649.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024