RGD:14723128 Rat Genome Database

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Variant: RGD:14723128 -  Homo sapiens

RGD ID: 14723128
RS ID: rs7470855
ClinVar ID: CV663914
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  LOC124902301  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 137,664,871
GRCh38 9 134,773,025
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000093.5:c.2331+191G>C
NM_001278074.1:c.2331+191G>C
NG_008030.1:g.136220G>C
NC_000009.12:g.134773025G>C
More... 		06/14/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_001278074
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_000093
Location:INTRON

Gene Symbol:LOC124902301
Accession:XR_007061843
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000832397 CLINVAR
dbSNP (RS) rs7470855 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR