RGD:15149584 Rat Genome Database

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Variant: RGD:15149584 -  Homo sapiens

RGD ID: 15149584
RS ID: rs376963987
ClinVar ID: CV731361
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMA5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 60,894,856
GRCh38 20 62,319,800
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005560.6:c.6760-5C>T
NG_050626.1:g.52521C>T
NC_000020.11:g.62319800G>A
NC_000020.10:g.60894856G>A
More... 		02/26/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:LAMA5
Accession:XM_011528819
Location:INTRON

Gene Symbol:LAMA5
Accession:XM_011528818
Location:INTRON

Gene Symbol:LAMA5
Accession:XM_006723798
Location:INTRON

Gene Symbol:LAMA5
Accession:XM_006723796
Location:INTRON

Gene Symbol:LAMA5
Accession:XM_047440150
Location:INTRON

Gene Symbol:LAMA5
Accession:XM_047440149
Location:INTRON

Gene Symbol:LAMA5
Accession:XM_047440148
Location:INTRON

Gene Symbol:LAMA5
Accession:NM_005560
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000879195 CLINVAR
dbSNP (RS) rs376963987 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LAMA5 CLINVAR
OMIM 601033 CLINVAR