NM_000094.3(COL7A1):c.933C>A (p.Tyr311Ter) AND Recessive dystrophic epidermolysis bullosa

Clinical significance:Pathogenic (Last evaluated: Mar 1, 1995)

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:
RCV000018973.28

Allele description [Variation Report for NM_000094.3(COL7A1):c.933C>A (p.Tyr311Ter)]

NM_000094.3(COL7A1):c.933C>A (p.Tyr311Ter)

Gene:
COL7A1:collagen type VII alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_000094.3(COL7A1):c.933C>A (p.Tyr311Ter)
HGVS:
  • NC_000003.12:g.48592613G>T
  • NG_007065.1:g.7640C>A
  • NM_000094.3:c.933C>A
  • NP_000085.1:p.Tyr311Ter
  • LRG_286t1:c.933C>A
  • LRG_286:g.7640C>A
  • LRG_286p1:p.Tyr311Ter
  • NC_000003.11:g.48630046G>T
Protein change:
Y311*; TYR311TER
Links:
OMIM: 120120.0005; dbSNP: rs121912830
NCBI 1000 Genomes Browser:
rs121912830
Molecular consequence:
  • NM_000094.3:c.933C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Recessive dystrophic epidermolysis bullosa (RDEB)
Synonyms:
EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL RECESSIVE; EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009179; MedGen: C0079474; Orphanet: 79408; Orphanet: 79409; OMIM: 226600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000039260OMIMno assertion criteria providedPathogenic
(Mar 1, 1995)
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

Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa.

Christiano AM, Suga Y, Greenspan DS, Ogawa H, Uitto J.

J Clin Invest. 1995 Mar;95(3):1328-34.

PubMed [citation]
PMID:
7883979
PMCID:
PMC441472

Details of each submission

From OMIM, SCV000039260.2

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

Description

In 3 Japanese brothers with severe, mutilating recessive dystrophic epidermolysis bullosa (226600), Christiano et al. (1995) found compound heterozygosity for 2 nonsense mutations in the COL7A1 gene: a C-to-A transversion resulting in a tyr311-to-ter (Y311X) substitution, and a 1-bp deletion (5818delC; 120120.0006).

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

Last Updated: Oct 7, 2021

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