NM_000094.4(COL7A1):c.6007G>A (p.Gly2003Arg) AND Dominant dystrophic epidermolysis bullosa with absence of skin

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:
RCV000018976.27

Allele description [Variation Report for NM_000094.4(COL7A1):c.6007G>A (p.Gly2003Arg)]

NM_000094.4(COL7A1):c.6007G>A (p.Gly2003Arg)

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.6007G>A (p.Gly2003Arg)
HGVS:
  • NC_000003.12:g.48575512C>T
  • NG_007065.1:g.24741G>A
  • NM_000094.3:c.6007G>A
  • NM_000094.4:c.6007G>AMANE SELECT
  • NP_000085.1:p.Gly2003Arg
  • NP_000085.1:p.Gly2003Arg
  • LRG_286t1:c.6007G>A
  • LRG_286:g.24741G>A
  • LRG_286p1:p.Gly2003Arg
  • NC_000003.11:g.48612945C>T
  • Q02388:p.Gly2003Arg
Protein change:
G2003R; GLY2003ARG
Links:
UniProtKB: Q02388#VAR_001815; OMIM: 120120.0008; dbSNP: rs121912832
NCBI 1000 Genomes Browser:
rs121912832
Molecular consequence:
  • NM_000094.3:c.6007G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000094.4:c.6007G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dominant dystrophic epidermolysis bullosa with absence of skin
Synonyms:
EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS; EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE
Identifiers:
MONDO: MONDO:0007557; MedGen: C0268371; OMIM: 132000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000039263OMIMno assertion criteria providedPathogenic
(Apr 1, 1996)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa. A new syndrome.

Bart BJ, Gorlin RJ, Anderson VE, Lynch FW.

Arch Dermatol. 1966 Mar;93(3):296-304. No abstract available.

PubMed [citation]
PMID:
5910871

Genetic basis of Bart's syndrome: a glycine substitution mutation in type VII collagen gene.

Christiano AM, Bart BJ, Epstein EH Jr, Uitto J.

J Invest Dermatol. 1996 Apr;106(4):778-80. Corrected and republished in: J Invest Dermatol. 1996 Jun;106(6):1340-2.

PubMed [citation]
PMID:
8618021

Details of each submission

From OMIM, SCV000039263.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In affected individuals from the original family with Bart syndrome (132000) reported by Bart et al. (1966), Christiano et al. (1996) identified a heterozygous 6007G-A transition in exon 73 of the COL7A1 gene, resulting in a gly2003-to-arg (G2003R) substitution within the triple helical domain. The findings indicated that Bart syndrome is a clinical variant of dominant dystrophic epidermolysis bullosa (131750). Christiano et al. (1996) postulated that the clinical differences in the phenotype of the several forms of dominant dystrophic EB may result from the specific location of the glycine substitutions within exon 73.

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

Last Updated: Oct 25, 2021

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