NM_000124.3(ERCC6):c.1550G>A (p.Trp517Ter) AND Cockayne syndrome B

Clinical significance:Pathogenic (Last evaluated: Jan 1, 1998)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000001768.4

Allele description [Variation Report for NM_000124.3(ERCC6):c.1550G>A (p.Trp517Ter)]

NM_000124.3(ERCC6):c.1550G>A (p.Trp517Ter)

Gene:
ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q11.23
Genomic location:
Preferred name:
NM_000124.3(ERCC6):c.1550G>A (p.Trp517Ter)
HGVS:
  • NC_000010.11:g.49500673C>T
  • NG_009442.1:g.43429G>A
  • NM_000124.3:c.1550G>A
  • NP_000115.1:p.Trp517Ter
  • LRG_465t1:c.1550G>A
  • LRG_465:g.43429G>A
  • LRG_465p1:p.Trp517Ter
  • NC_000010.10:g.50708719C>T
  • NM_000124.2:c.1550G>A
Protein change:
W517*; TRP517TER
Links:
OMIM: 609413.0001; dbSNP: rs121917900
NCBI 1000 Genomes Browser:
rs121917900
Molecular consequence:
  • NM_000124.3:c.1550G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Cockayne syndrome B (CSB)
Synonyms:
Cockayne Syndrome, Type II
Identifiers:
MedGen: C0751038; Orphanet: 191; OMIM: 133540

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000021924OMIMno assertion criteria providedPathogenic
(Jan 1, 1998)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.

Mallery DL, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.

Am J Hum Genet. 1998 Jan;62(1):77-85. Erratum in: Am J Hum Genet 1999 May;64(5):1491.

PubMed [citation]
PMID:
9443879
PMCID:
PMC1376810

Details of each submission

From OMIM, SCV000021924.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a Turkish patient with Cockayne syndrome B (CSB; 133540), Mallery et al. (1998) identified a homozygous 1630G-A transition in the ERCC6 gene, resulting in a trp517-to-ter (W517X) substitution. The patient was born of consanguineous parents.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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