RGD:150488121 Rat Genome Database

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Variant: RGD:150488121 -  Homo sapiens

RGD ID: 150488121
RS ID: rs76739261
ClinVar ID: CV1283955
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 137,703,489
GRCh38 9 134,811,643
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008030.1:g.174838C>T
NC_000009.12:g.134811643C>T
NC_000009.11:g.137703489C>T
LRG_737t2:c.3690+44C>T
More... 		07/13/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:COL5A1
Accession:NM_001278074
Location:INTRON

Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_000093
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001716054 CLINVAR
dbSNP (RS) rs76739261 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR