RGD:11595437 Rat Genome Database

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Variant: RGD:11595437 -  Homo sapiens

RGD ID: 11595437
RS ID: rs200224891
ClinVar ID: CV298926
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMA2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 129,499,023
GRCh38 6 129,177,878
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_409t1:c.1467+12A>G
LRG_409:g.299738A>G
NG_008678.1:g.299738A>G
NC_000006.12:g.129177878A>G
More... 		11/19/2021 intron variant likely benign|uncertain significance Laminin alpha 2-related dystrophy

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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000370441 CLINVAR
  RCV002061304 CLINVAR
dbSNP (RS) rs200224891 CLINVAR
MedGen C1842898 CLINVAR
  C5679788 CLINVAR
NCBI Gene LAMA2 CLINVAR
OMIM 156225 CLINVAR