RGD:11594314 Rat Genome Database

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Variant: RGD:11594314 -  Homo sapiens

RGD ID: 11594314
RS ID: rs10080633
ClinVar ID: CV301370
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMA2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 129,204,319
GRCh38 6 128,883,174
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.-72G>A
LRG_409t1:c.-72G>A
LRG_409:g.5034G>A
NG_008678.1:g.5034G>A
More... 		07/27/2018 5 prime utr variant benign|likely benign none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LAMA2
Accession:NM_000426
Location:5UTRS;EXON

Gene Symbol:LAMA2
Accession:NM_001079823
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000357875 CLINVAR
  RCV001675863 CLINVAR
dbSNP (RS) rs10080633 CLINVAR
MedGen C1842898 CLINVAR
  C3661900 CLINVAR
NCBI Gene LAMA2 CLINVAR
OMIM 156225 CLINVAR