NM_000094.4(COL7A1):c.6082G>A AND Dystrophic epidermolysis bullosa

Clinical significance:Pathogenic (Last evaluated: Jan 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001352760.1

Allele description [Variation Report for NM_000094.4(COL7A1):c.6082G>A]

NM_000094.4(COL7A1):c.6082G>A

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.6082G>A
HGVS:
  • NC_000003.12:g.48575437C>T
  • NG_007065.1:g.24816G>A
  • NM_000094.3:c.6082G>A
  • NM_000094.4:c.6082G>AMANE SELECT
  • NP_000085.1:p.Gly2028Arg
  • LRG_286t1:c.6082G>A
  • LRG_286:g.24816G>A
  • LRG_286p1:p.Gly2028Arg
  • NC_000003.11:g.48612870C>T
  • p.Gly2028Arg
Protein change:
G2028R
Links:
dbSNP: rs762162799
NCBI 1000 Genomes Browser:
rs762162799
Molecular consequence:
  • NM_000094.3:c.6082G>A - 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
SCV001547342Biomedical Innovation Departament, CIEMATcriteria provided, single submitter
Pathogenic
(Jan 28, 2019)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedresearch

Citations

PubMed

A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa.

Lee JY, Li C, Chao SC, Pulkkinen L, Uitto J.

Arch Dermatol Res. 2000 Apr;292(4):159-63.

PubMed [citation]
PMID:
10836608

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, SCV001547342.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 8, 2021

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