RGD:401950055 Rat Genome Database

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Variant: RGD:401950055 -  Homo sapiens

RGD ID: 401950055
ClinVar ID: CV2834679
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMA2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 129,612,866
GRCh38 6 129,291,721
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000426.4:c.2856+1G>C
NM_001079823.2:c.2856+1G>C
LRG_409:g.413581G>C
NG_008678.1:g.413581G>C
More... 		02/18/2023 splice donor variant likely pathogenic Congenital merosin-deficient muscular dystrophy 1A; Muscular dystrophy congenital, merosin negative
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 RCV003476458 CLINVAR
MedGen C1263858 CLINVAR
NCBI Gene LAMA2 CLINVAR
OMIM 156225 CLINVAR
  607855 CLINVAR
SNOMED CT 111503008 CLINVAR