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NM_000228.2(LAMB3):c.1439_1443delCGTGT (p.Pro480Argfs)

Variation ID: Help
14547
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Dec 1, 1998
Number of submission(s):
1
Condition(s):
Adult junctional epidermolysis bullosa[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000228.2(LAMB3):c.1439_1443delCGTGT (p.Pro480Argfs)

Allele ID:
29586
Variant type:
Deletion
Cytogenetic location:
1q32.2
Genomic location:
  • Chr1: 209627425 - 209627429 (on Assembly GRCh38)
  • Chr1: 209800770 - 209800774 (on Assembly GRCh37)
HGVS:
  • NG_007116.1:g.30047_30051delCGTGT
  • NM_000228.2:c.1439_1443delCGTGT
  • NP_000219.2:p.Pro480Argfs
  • NC_000001.11:g.209627425_209627429delACACG (GRCh38)
  • NC_000001.10:g.209800770_209800774delACACG (GRCh37)
Note:
NCBI staff reviewed the sequence information reported in PubMed 9856855 Fig. 1C to determine the location of this allele on the current reference sequence.
Links:
NCBI 1000 Genomes Browser:
rs786205095
Molecular consequence:
NM_000228.2:c.1439_1443delCGTGT: frameshift variant [Sequence Ontology SO:0001589]

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Dec 1, 1998)
no assertion criteria providedliterature only
  • Adult junctional epidermolysis bullosa[MedGen | OMIM]
germlineOMIMSCV000035913.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 6, 2017