RGD:151812328 Rat Genome Database

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Variant: RGD:151812328 -  Homo sapiens

RGD ID: 151812328
RS ID: rs779834223
ClinVar ID: CV1515938
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMA2  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 129,674,504
GRCh38 6 129,353,359
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.4717+2T>A
NM_001079823.2:c.4717+2T>A
LRG_409:g.475219T>A
NG_008678.1:g.475219T>A
More... 		10/14/2021 splice donor variant 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:16199547   PMID:18700894   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002012561 CLINVAR
dbSNP (RS) rs779834223 CLINVAR
MedGen C5679788 CLINVAR
NCBI Gene LAMA2 CLINVAR
OMIM 156225 CLINVAR