RGD:155732246 Rat Genome Database

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Variant: RGD:155732246 -  Homo sapiens

RGD ID: 155732246
ClinVar ID: CV1804898
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  LOC101448202  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 137,712,073
GRCh38 9 134,820,227
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_737t2:c.4554+4C>T
LRG_737:g.183422C>T
NG_008030.1:g.183422C>T
NM_000093.3:c.4554+4C>T
More... 		06/24/2019 intron variant uncertain significance Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:COL5A1
Accession:NM_001278074
Location:INTRON

Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002340172 CLINVAR
MedGen C4707243 CLINVAR
NCBI Gene COL5A1 CLINVAR
  LOC101448202 CLINVAR
OMIM 120215 CLINVAR