RGD:10041541 Rat Genome Database

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Variant: RGD:10041541 -  Homo sapiens

RGD ID: 10041541
RS ID: rs146794392
ClinVar ID: CV186609
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMB3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 209,797,344
GRCh38 1 209,623,999
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_007116.1:g.33477C>T
NC_000001.11:g.209623999G>A
NC_000001.10:g.209797344G>A
NP_000219.2:p.Arg660Ter
More... 		12/10/2018 2kb upstream variant|nonsense pathogenic|likely pathogenic neonatal/infancy 1-9 / 1 000 000 EPIDERMOLYSIS BULLOSA JUNCTIONALIS, HERLITZ TYPE; Epidermolysis Bullosa Letalis; EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE; Epidermolysis bullosa, junctional, Herlitz-Pearson type; Herlitz-Pearson type epidermolysis bullosa; Herlitz-type junctional epidermolysis bullosa; JEB-HERLITZ TYPE; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LAMB3
Accession:XM_047420351
Location:EXON

Gene Symbol:LAMB3
Accession:NM_001127641
Location:EXON

Gene Symbol:LAMB3
Accession:NM_000228
Location:EXON

Gene Symbol:LAMB3
Accession:XM_005273124
Location:EXON

Gene Symbol:LAMB3
Accession:XM_017001272
Location:EXON

Gene Symbol:LAMB3
Accession:NM_001017402
Location:EXON

Variant Samples
Additional References at PubMed
PMID:8824879   PMID:9160387   PMID:11023379   PMID:12813757   PMID:16473856   PMID:21801158   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000169424 CLINVAR
  RCV000579120 CLINVAR
dbSNP (RS) rs146794392 CLINVAR
MedGen C0079683 CLINVAR
  C3661900 CLINVAR
NCBI Gene LAMB3 CLINVAR
OMIM 150310 CLINVAR
  226700 CLINVAR
SNOMED CT 400140006 CLINVAR