NM_000228.2(LAMB3):c.957_958ins77 (p.?) AND Junctional epidermolysis bullosa gravis of Herlitz

Clinical significance:Pathogenic (Last evaluated: Feb 22, 2008)

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:
RCV000020224.2

Allele description [Variation Report for NM_000228.2(LAMB3):c.957_958ins77 (p.?)]

NM_000228.2(LAMB3):c.957_958ins77 (p.?)

Gene:
LAMB3:laminin, beta 3 [Gene - OMIM]
Variant type:
Insertion
Cytogenetic location:
1q32.2
Genomic location:
Preferred name:
NM_000228.2(LAMB3):c.957_958ins77 (p.?)
HGVS:
  • NC_000001.11:g.209629911_209629912ins77
  • NG_007116.1:g.27564_27565ins77
  • NM_000228.2:c.957_958ins77
  • NP_000219.2:p.?
  • NC_000001.10:g.209803256_209803257ins77
  • NM_000228.2:c.957ins77
Note:
77-nt insertion into exon 10 of LAMB3 (NG_007116.1)
Links:
dbVar: nsv1067835

Condition(s)

Name:
Junctional epidermolysis bullosa gravis of Herlitz
Synonyms:
EPIDERMOLYSIS BULLOSA JUNCTIONALIS, HERLITZ TYPE; JEB-HERLITZ TYPE; Epidermolysis bullosa, junctional, Herlitz-Pearson type; See all synonyms [MedGen]
Identifiers:
MedGen: C0079683; Orphanet: 79404; OMIM: 226700
Age of onset:
Neonatal/infancy
Prevalence:
1-9 / 1 000 000 79404

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000040567GeneReviewsno assertion criteria providedpathologic
(Feb 22, 2008)
not providedcuration

Summary from all submissions

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

Details of each submission

From GeneReviews, SCV000040567.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Jun 18, 2015