RGD:14723707 Rat Genome Database

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Variant: RGD:14723707 -  Homo sapiens

RGD ID: 14723707
RS ID: rs76855839
ClinVar ID: CV663903
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 137,687,183
GRCh38 9 134,795,337
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.2799+22C>T
NM_000093.5:c.2799+22C>T
NM_000093.3:c.2799+22C>T
NG_008030.1:g.158532C>T
More... 		06/14/2018 intron variant 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 RCV000832658 CLINVAR
dbSNP (RS) rs76855839 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR