NM_000094.4(COL7A1):c.7411C>T (p.Arg2471Ter) AND Recessive dystrophic epidermolysis bullosa

Clinical significance:Pathogenic (Last evaluated: Apr 1, 1996)

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:
RCV000019010.29

Allele description [Variation Report for NM_000094.4(COL7A1):c.7411C>T (p.Arg2471Ter)]

NM_000094.4(COL7A1):c.7411C>T (p.Arg2471Ter)

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_000094.4(COL7A1):c.7411C>T (p.Arg2471Ter)
HGVS:
  • NC_000003.12:g.48570304G>A
  • NG_007065.1:g.29949C>T
  • NM_000094.3:c.7411C>T
  • NM_000094.4:c.7411C>TMANE SELECT
  • NP_000085.1:p.Arg2471Ter
  • NP_000085.1:p.Arg2471Ter
  • LRG_286t1:c.7411C>T
  • LRG_286:g.29949C>T
  • LRG_286p1:p.Arg2471Ter
  • NC_000003.11:g.48607737G>A
  • NC_000003.11:g.48607737G>A
Protein change:
R2471*; ARG2471TER
Links:
OMIM: 120120.0037; dbSNP: rs121912852
NCBI 1000 Genomes Browser:
rs121912852
Molecular consequence:
  • NM_000094.3:c.7411C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_000094.4:c.7411C>T - 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
SCV000039297OMIMno assertion criteria providedPathogenic
(Apr 1, 1996)
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

Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.

Christiano AM, McGrath JA, Tan KC, Uitto J.

Am J Hum Genet. 1996 Apr;58(4):671-81.

PubMed [citation]
PMID:
8644729
PMCID:
PMC1914674

Details of each submission

From OMIM, SCV000039297.3

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

Description

For discussion of the arg2471-to-ter (R2471X) mutation in the COL7A1 gene that was found in compound heterozygous state in a patient with autosomal recessive epidermolysis bullosa dystrophica (226600) by Christiano et al. (1996), see 120120.0036.

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

Last Updated: Oct 25, 2021

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