RGD:14717693 Rat Genome Database

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Variant: RGD:14717693 -  Homo sapiens

RGD ID: 14717693
ClinVar ID: CV671389
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 137,630,568
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Clinical Significance Trait Synonyms
NC_000009.12:g.134738722C>T
NC_000009.11:g.137630568C>T
NM_000093.3:c.1432-24C>T
06/18/2018 benign

Variant Details
Variant Transcripts
Gene Symbol:COL5A1
Accession:NM_000093
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_001278074
Location:INTRON

Variant Samples