RGD:150510867 Rat Genome Database

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Variant: RGD:150510867 -  Homo sapiens

RGD ID: 150510867
RS ID: rs12353380
ClinVar ID: CV1242529
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  LOC101448202  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 137,721,645
GRCh38 9 134,829,799
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_737t2:c.5068-309C>A
NM_000093.5:c.5068-177C>A
NM_001278074.1:c.5068-309C>A
LRG_737:g.192994C>A
More... 		06/23/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:COL5A1
Accession:NM_000093
Location:INTRON

Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_001278074
Location:INTRON

Gene Symbol:LOC101448202
Accession:NR_103451
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001660881 CLINVAR
dbSNP (RS) rs12353380 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL5A1 CLINVAR
  LOC101448202 CLINVAR
OMIM 120215 CLINVAR