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NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter) AND Generalized dominant dystrophic epidermolysis bullosa

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003318572.2

Allele description [Variation Report for NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter)]

NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter)

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.1732C>T (p.Arg578Ter)
HGVS:
  • NC_000003.12:g.48590721G>A
  • NG_007065.1:g.9532C>T
  • NM_000094.4:c.1732C>TMANE SELECT
  • NP_000085.1:p.Arg578Ter
  • NP_000085.1:p.Arg578Ter
  • LRG_286t1:c.1732C>T
  • LRG_286:g.9532C>T
  • LRG_286p1:p.Arg578Ter
  • NC_000003.11:g.48628154G>A
  • NM_000094.3:c.1732C>T
Protein change:
R578*
Links:
dbSNP: rs144023803
NCBI 1000 Genomes Browser:
rs144023803
Molecular consequence:
  • NM_000094.4:c.1732C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Generalized dominant dystrophic epidermolysis bullosa (DDEB)
Synonyms:
DDEB, generalized; DDEB-gen; DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL DOMINANT; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007549; MedGen: C0432322; Orphanet: 231568; OMIM: 131750

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004023205GeneReviews
no classification provided
not providedgermlineliterature only

Summary from all submissions

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

Details of each submission

From GeneReviews, SCV004023205.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 19, 2024