RGD:11544006 Rat Genome Database

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Variant: RGD:11544006 -  Homo sapiens

RGD ID: 11544006
RS ID: rs2076350
ClinVar ID: CV249686
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMB3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 209,800,341
GRCh38 1 209,626,996
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007116.1:g.30480G>A
NC_000001.11:g.209626996C>T
NC_000001.10:g.209800341C>T
NM_000228.3:c.1486-18G>A
More... 		12/18/2021 intron variant benign Adult junctional epidermolysis bullosa; AllHighlyPenetrant; Amelogenesis imperfecta local hypoplastic; Amelogenesis imperfecta, hypoplastic type; AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA; Amelogenesis imperfecta, type IA; Epidermolysis bullosa junctionalis, disentis type; EPIDERMOLYSIS BULLOSA JUNCTIONALIS, HERLITZ TYPE; EPIDERMOLYSIS BULLOSA JUNCTIONALIS, NON-HERLITZ TYPE; Epidermolysis bullosa junctionalis, progressive; Epidermolysis bullosa junctionalis, severe nonlethal; Epidermolysis Bullosa Letalis; EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE; EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE; Epidermolysis bullosa, junctional, Herlitz-Pearson type; Epidermolysis bullosa, junctional, non-herlitz type, somatic mosaic revertant; Herlitz-Pearson type epidermolysis bullosa; Herlitz-type junctional epidermolysis bullosa; JEB-HERLITZ TYPE; none provided

Variant Details
Variant Transcripts
Gene Symbol:LAMB3
Accession:XM_005273124
Location:INTRON

Gene Symbol:LAMB3
Accession:XM_017001272
Location:INTRON

Gene Symbol:LAMB3
Accession:NM_001017402
Location:INTRON

Gene Symbol:LAMB3
Accession:NM_000228
Location:INTRON

Gene Symbol:LAMB3
Accession:NM_001127641
Location:INTRON

Gene Symbol:LAMB3
Accession:XM_047420351
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000243210 CLINVAR
  RCV001537703 CLINVAR
  RCV001537704 CLINVAR
  RCV001537705 CLINVAR
  RCV001711528 CLINVAR
dbSNP (RS) rs2076350 CLINVAR
MedGen C0079683 CLINVAR
  C0268374 CLINVAR
  C3661900 CLINVAR
  C4011403 CLINVAR
  CN169374 CLINVAR
NCBI Gene LAMB3 CLINVAR
OMIM 104530 CLINVAR
  150310 CLINVAR
  226650 CLINVAR
  226700 CLINVAR
SNOMED CT 109476006 CLINVAR
  33662006 CLINVAR
  400140006 CLINVAR