RGD:28886686 Rat Genome Database

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Variant: RGD:28886686 -  Homo sapiens

RGD ID: 28886686
RS ID: rs572960610
ClinVar ID: CV896183
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMA2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 129,807,779
GRCh38 6 129,486,634
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.7898+12A>G
LRG_409:g.608494A>G
NG_008678.1:g.608494A>G
NC_000006.12:g.129486634A>G
More... 		09/23/2022 intron variant likely benign|uncertain significance Congenital merosin-deficient muscular dystrophy 1A; Laminin alpha 2-related dystrophy; Muscular dystrophy congenital, merosin negative; Muscular dystrophy, limb-girdle, autosomal recessive 23

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   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001151227 CLINVAR
  RCV002505728 CLINVAR
  RCV002557260 CLINVAR
dbSNP (RS) rs572960610 CLINVAR
MedGen C1263858 CLINVAR
  C1842898 CLINVAR
  C5679788 CLINVAR
NCBI Gene LAMA2 CLINVAR
OMIM 156225 CLINVAR
  607855 CLINVAR
  618138 CLINVAR
SNOMED CT 111503008 CLINVAR