NM_000094.4(COL7A1):c.5440C>T (p.Arg1814Cys) AND Dystrophic epidermolysis bullosa

Clinical significance:Pathogenic (Last evaluated: Jul 17, 2009)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001352698.1

Allele description [Variation Report for NM_000094.4(COL7A1):c.5440C>T (p.Arg1814Cys)]

NM_000094.4(COL7A1):c.5440C>T (p.Arg1814Cys)

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.5440C>T (p.Arg1814Cys)
HGVS:
  • NC_000003.12:g.48578500G>A
  • NG_007065.1:g.21753C>T
  • NM_000094.4:c.5440C>TMANE SELECT
  • NP_000085.1:p.Arg1814Cys
  • LRG_286t1:c.5440C>T
  • LRG_286:g.21753C>T
  • NC_000003.11:g.48615933G>A
  • NM_000094.3:c.5440C>T
  • p.Arg1814Cys
Protein change:
R1814C
Molecular consequence:
  • NM_000094.4:c.5440C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dystrophic epidermolysis bullosa
Synonyms:
Epidermolysis Bullosa Dystrophica; Severe generalized recessive dystrophic epidermolysis bullosa; RDEB-sev gen; See all synonyms [MedGen]
Identifiers:
MedGen: C0079294

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001547324Biomedical Innovation Departament, CIEMATcriteria provided, single submitter
Pathogenic
(Jul 17, 2009)
germlineresearch

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedresearch

Citations

PubMed

Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants.

Dang N, Klingberg S, Marr P, Murrell DF.

J Dermatol Sci. 2007 Jun;46(3):169-78. Epub 2007 Apr 10. Review.

PubMed [citation]
PMID:
17425959

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Biomedical Innovation Departament, CIEMAT, SCV001547324.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 23, 2021

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