RGD:11601990 Rat Genome Database

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Variant: RGD:11601990 -  Homo sapiens

RGD ID: 11601990
RS ID: rs529530286
ClinVar ID: CV317833
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  LOC101448202  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 137,736,401
GRCh38 9 134,844,555
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.*2252T>C
NG_008030.1:g.207750T>C
NC_000009.12:g.134844555T>C
NC_000009.11:g.137736401T>C
More... 		06/14/2016 3 prime utr variant uncertain significance
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 RCV000287206 CLINVAR
dbSNP (RS) rs529530286 CLINVAR
MedGen C3508773 CLINVAR
NCBI Gene 101448202 CLINVAR
  COL5A1 CLINVAR
OMIM 120215 CLINVAR