RGD:405233001 Rat Genome Database

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Variant: RGD:405233001 -  Homo sapiens

RGD ID: 405233001
ClinVar ID: CV2998291
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMA2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 129,704,300
GRCh38 6 129,383,155
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_409t1:c.4993G>C
NM_000426.4:c.4993G>C
NM_001079823.2:c.4993G>C
LRG_409:g.505015G>C
More... 		02/12/2023 missense variant benign Laminin alpha 2-related dystrophy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003735261 CLINVAR
MedGen C5679788 CLINVAR
NCBI Gene LAMA2 CLINVAR
OMIM 156225 CLINVAR