RGD:11606691 Rat Genome Database

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Variant: RGD:11606691 -  Homo sapiens

RGD ID: 11606691
RS ID: rs1134114
ClinVar ID: CV317332
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  LOC101448202  LOC127816665  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 137,734,460
GRCh38 9 134,842,614
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.*311C>T
NG_008030.1:g.205809C>T
NC_000009.12:g.134842614C>T
NC_000009.11:g.137734460C>T
More... 		06/14/2018 3 prime utr variant benign|likely benign EDS I; Ehlers-Danlos syndrome, classic type I; EHLERS-DANLOS SYNDROME, GRAVIS TYPE; EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE; Ehlers-Danlos syndrome, type 1; none provided
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 References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000334498 CLINVAR
  RCV001653754 CLINVAR
  RCV002270235 CLINVAR
  RCV002270236 CLINVAR
dbSNP (RS) rs1134114 CLINVAR
MedGen C0268335 CLINVAR
  C3508773 CLINVAR
  C3661900 CLINVAR
  C5543412 CLINVAR
NCBI Gene 101448202 CLINVAR
  COL5A1 CLINVAR
OMIM 120215 CLINVAR
  130000 CLINVAR
  619329 CLINVAR
SNOMED CT 83470009 CLINVAR