RGD:150431244 Rat Genome Database

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Variant: RGD:150431244 -  Homo sapiens

RGD ID: 150431244
RS ID: rs201112363
ClinVar ID: CV1206284
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 137,660,235
GRCh38 9 134,768,389
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_737t2:c.2233-21G>C
NM_000093.5:c.2233-21G>C
NM_001278074.1:c.2233-21G>C
NG_008030.1:g.131584G>C
More... 		09/18/2020 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 RCV001580933 CLINVAR
dbSNP (RS) rs201112363 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR