RGD:14721001 Rat Genome Database

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Variant: RGD:14721001 -  Homo sapiens

RGD ID: 14721001
RS ID: rs4842159
ClinVar ID: CV664115
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 137,658,730
GRCh38 9 134,766,884
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.2134-116T>C
NG_008030.1:g.130079T>C
NC_000009.12:g.134766884T>C
NC_000009.11:g.137658730T>C
More... 		06/14/2018 intron variant benign none provided

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

Gene Symbol:COL5A1
Accession:NM_000093
Location:INTRON

Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000831484 CLINVAR
dbSNP (RS) rs4842159 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR