RGD:405241929 Rat Genome Database

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Variant: RGD:405241929 -  Homo sapiens

RGD ID: 405241929
ClinVar ID: CV3062937
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMA2  LOC102723409  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 129,824,274
GRCh38 6 129,503,129
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_409t1:c.8396C>G
NM_001079823.2:c.8384C>G
NM_000426.4:c.8396C>G
LRG_409:g.624989C>G
More... 		06/04/2023 missense variant likely 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 RCV003737354 CLINVAR
MedGen C5679788 CLINVAR
NCBI Gene LAMA2 CLINVAR
OMIM 156225 CLINVAR