RGD:150419416 Rat Genome Database

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Variant: RGD:150419416 -  Homo sapiens

RGD ID: 150419416
RS ID: rs146398092
ClinVar ID: CV1194170
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 137,660,487
GRCh38 9 134,768,641
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_737t2:c.2286+178A>C
NM_000093.5:c.2286+178A>C
NM_001278074.1:c.2286+178A>C
LRG_737:g.131836A>C
More... 		03/03/2019 intron variant likely 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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001569678 CLINVAR
dbSNP (RS) rs146398092 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR