RGD:28883488 Rat Genome Database

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Variant: RGD:28883488 -  Homo sapiens

RGD ID: 28883488
RS ID: rs910306671
ClinVar ID: CV901488
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  LOC101448202  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 137,735,014
GRCh38 9 134,843,168
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_737t2:c.*865T>A
NM_001278074.1:c.*865T>A
LRG_737t1:c.*865T>A
NM_000093.5:c.*865T>A
More... 		06/30/2017 3 prime utr variant benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL5A1
Accession:NM_000093
Location:3UTRS;EXON

Gene Symbol:COL5A1
Accession:NM_001278074
Location:3UTRS;EXON

Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

Gene Symbol:LOC101448202
Accession:NR_103451
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001168224 CLINVAR
dbSNP (RS) rs910306671 CLINVAR
MedGen C4225429 CLINVAR
NCBI Gene 101448202 CLINVAR
  COL5A1 CLINVAR
OMIM 120215 CLINVAR