RGD:11602580 Rat Genome Database

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Variant: RGD:11602580 -  Homo sapiens

RGD ID: 11602580
RS ID: rs1134170
ClinVar ID: CV317776
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  LOC101448202  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 137,735,274
GRCh38 9 134,843,428
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.*1125A>T
NG_008030.1:g.206623A>T
NC_000009.12:g.134843428A>T
NC_000009.11:g.137735274A>T
More... 		06/14/2016 3 prime utr variant benign ED syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL5A1
Accession:NM_001278074
Location:3UTRS;EXON

Gene Symbol:COL5A1
Accession:NM_000093
Location:3UTRS;EXON

Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000292278 CLINVAR
  RCV002278633 CLINVAR
dbSNP (RS) rs1134170 CLINVAR
MedGen C0013720 CLINVAR
  C3508773 CLINVAR
NCBI Gene 101448202 CLINVAR
  COL5A1 CLINVAR
OMIM 120215 CLINVAR
SNOMED CT 398114001 CLINVAR