RGD:11547402 Rat Genome Database

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Variant: RGD:11547402 -  Homo sapiens

RGD ID: 11547402
RS ID: rs3828735
ClinVar ID: CV252099
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMA2  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 129,724,942
GRCh38 6 129,403,797
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000426.3:c.5727-24T>A
LRG_409t1:c.5727-24T>A
LRG_409:g.525657T>A
NG_008678.1:g.525657T>A
More... 		06/18/2018 intron variant benign AllHighlyPenetrant; Congenital merosin-deficient muscular dystrophy 1A; Muscular dystrophy congenital, merosin negative; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LAMA2
Accession:NM_000426
Location:INTRON

Gene Symbol:LAMA2
Accession:NM_001079823
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000247711 CLINVAR
  RCV000843074 CLINVAR
  RCV001730613 CLINVAR
  RCV001730614 CLINVAR
dbSNP (RS) rs3828735 CLINVAR
MedGen C1263858 CLINVAR
  C3661900 CLINVAR
  C4748327 CLINVAR
  CN169374 CLINVAR
NCBI Gene LAMA2 CLINVAR
OMIM 156225 CLINVAR
  607855 CLINVAR
  618138 CLINVAR
SNOMED CT 111503008 CLINVAR