NM_000228.2(LAMB3):c.628+42G>A

Variation ID: Help
14549
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
May 1, 2007
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.628+42G>A

Allele ID:
29588
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.2
Genomic location:
  • Chr1: 209633028 (on Assembly GRCh38)
  • Chr1: 209806373 (on Assembly GRCh37)
Other names:
  • IVS7, G-A, +42
HGVS:
  • NG_007116.1:g.24448G>A
  • NM_000228.2:c.628+42G>A
  • NC_000001.11:g.209633028C>T (GRCh38)
  • NC_000001.10:g.209806373C>T (GRCh37)
Note:
NCBI staff reviewed the sequence information reported in PubMed PMID 17476356 Fig. 4C to determine the location of this allele on the current reference sequence.
Links:
NCBI 1000 Genomes Browser:
rs587776812
Molecular consequence:
NM_000228.2:c.628+42G>A: intron variant [Sequence Ontology SO:0001627]

Variant frequency in dbGaP Help

NM_000228.2(LAMB3):c.628+42G>A

GRCh37 Chr1:209806373
Called variantsPotential variants
Sample countno data0 of 40920

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

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Assertion and evidence details

Somatic

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(May 1, 2007)
no assertion criteria providedliterature only
  • Adult junctional epidermolysis bullosa[MedGen | OMIM]
somaticOMIMSCV000035915.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedsomaticnot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Dec 6, 2016