NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter) AND Junctional epidermolysis bullosa, non-Herlitz type

Clinical significance:Likely pathogenic (Last evaluated: Jan 2, 2014)

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:
RCV000984191.1

Allele description [Variation Report for NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter)]

NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter)

Gene:
LAMA3:laminin subunit alpha 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q11.2
Genomic location:
Preferred name:
NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter)
HGVS:
  • NC_000018.10:g.23939301C>T
  • NG_007853.2:g.254704C>T
  • NM_000227.6:c.4114C>T
  • NM_001127717.4:c.8773C>T
  • NM_001127718.4:c.3946C>T
  • NM_198129.4:c.8941C>TMANE SELECT
  • NP_000218.3:p.Gln1372Ter
  • NP_001121189.2:p.Gln2925Ter
  • NP_001121190.2:p.Gln1316Ter
  • NP_937762.2:p.Gln2981Ter
  • NC_000018.9:g.21519265C>T
  • NM_000227.3:c.4114C>T
Protein change:
Q1316*
Links:
dbSNP: rs772038362
NCBI 1000 Genomes Browser:
rs772038362
Molecular consequence:
  • NM_000227.6:c.4114C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001127717.4:c.8773C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001127718.4:c.3946C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_198129.4:c.8941C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Junctional epidermolysis bullosa, non-Herlitz type (GABEB)
Synonyms:
EPIDERMOLYSIS BULLOSA JUNCTIONALIS, NON-HERLITZ TYPE; Epidermolysis bullosa, generalized atrophic benign; Epidermolysis bullosa junctionalis, progressive; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009180; MedGen: C0268374; Orphanet: 251393; Orphanet: 79402; Orphanet: 79405; Orphanet: 89840; OMIM: 226650

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001132241Counsylno assertion criteria providedLikely pathogenic
(Jan 2, 2014)
unknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Counsyl, SCV001132241.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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