RGD:405232557 Rat Genome Database

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Variant: RGD:405232557 -  Homo sapiens

RGD ID: 405232557
ClinVar ID: CV2969726
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMA2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 129,774,277
GRCh38 6 129,453,132
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.6573+1G>C
NM_001079823.2:c.6573+1G>C
LRG_409:g.574992G>C
NG_008678.1:g.574992G>C
More... 		02/05/2023 splice donor variant likely pathogenic Laminin alpha 2-related dystrophy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:16199547   PMID:18700894   PMID:28492532   PMID:32904964  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003735165 CLINVAR
MedGen C5679788 CLINVAR
NCBI Gene LAMA2 CLINVAR
OMIM 156225 CLINVAR