RGD:12833098 Rat Genome Database

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Variant: RGD:12833098 -  Homo sapiens

RGD ID: 12833098
RS ID: rs1057522143
ClinVar ID: CV370017
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 137,591,751
GRCh38 9 134,699,905
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001278074.1:c.278-4C>A
NG_008030.1:g.63100C>A
NC_000009.12:g.134699905C>A
NC_000009.11:g.137591751C>A
More... 		03/29/2016 intron variant likely benign AllHighlyPenetrant

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 RCV000417858 CLINVAR
dbSNP (RS) rs1057522143 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR