RGD:38497711 Rat Genome Database

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Variant: RGD:38497711 -  Homo sapiens

RGD ID: 38497711
RS ID: rs771046502
ClinVar ID: CV960579
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMA2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 129,722,490
GRCh38 6 129,401,345
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_409t1:c.5562+5G>A
NM_000426.4:c.5562+5G>A
NM_001079823.2:c.5562+5G>A
LRG_409:g.523205G>A
More... 		08/04/2023 intron variant pathogenic|likely pathogenic Laminin alpha 2-related dystrophy
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:9536098   PMID:10611118   PMID:12552556   PMID:17576681   PMID:20207543   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001243340 CLINVAR
dbSNP (RS) rs771046502 CLINVAR
MedGen C5679788 CLINVAR
NCBI Gene LAMA2 CLINVAR
OMIM 156225 CLINVAR