RGD:404987194 Rat Genome Database

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Variant: RGD:404987194 -  Homo sapiens

RGD ID: 404987194
ClinVar ID: CV3135527
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMA2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 129,588,379
GRCh38 6 129,267,234
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.2322+15C>T
NM_001079823.2:c.2322+15C>T
LRG_409:g.389094C>T
NG_008678.1:g.389094C>T
More... 		03/09/2023 intron variant likely benign 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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003826822 CLINVAR
MedGen C5679788 CLINVAR
NCBI Gene LAMA2 CLINVAR
OMIM 156225 CLINVAR