RGD:13788113 Rat Genome Database

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Variant: RGD:13788113 -  Homo sapiens

RGD ID: 13788113
RS ID: rs1554297884
ClinVar ID: CV543874
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMA2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 129,763,360
GRCh38 6 129,442,215
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_409t1:c.6269-848T>C
LRG_409:g.564075T>C
NG_008678.1:g.564075T>C
NC_000006.12:g.129442215T>C
More... 		04/03/2018 intron variant likely benign Congenital merosin-deficient muscular dystrophy 1A; Muscular dystrophy congenital, merosin negative
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 Information

Database Acc Id Source(s)
ClinVar RCV000673799 CLINVAR
dbSNP (RS) rs1554297884 CLINVAR
MedGen C1263858 CLINVAR
NCBI Gene LAMA2 CLINVAR
OMIM 156225 CLINVAR
  607855 CLINVAR
SNOMED CT 111503008 CLINVAR