RGD:10411426 Rat Genome Database

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Variant: RGD:10411426 -  Homo sapiens

RGD ID: 10411426
RS ID: rs187584029
ClinVar ID: CV210078
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 137,704,286
GRCh38 9 134,812,440
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_001278074.1:c.3691-9T>C
NG_008030.1:g.175635T>C
NC_000009.12:g.134812440T>C
NC_000009.11:g.137704286T>C
More... 		10/10/2020 intron variant benign|likely benign|conflicting interpretations of pathogenicity childhood 1-9 / 100 000 AllHighlyPenetrant; Connective tissue disease; ED syndrome; 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:INTRON

Gene Symbol:COL5A1
Accession:NM_001278074
Location:INTRON

Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000200238 CLINVAR
  RCV000659454 CLINVAR
  RCV001701556 CLINVAR
  RCV002229035 CLINVAR
  RCV002269993 CLINVAR
  RCV002277466 CLINVAR
dbSNP (RS) rs187584029 CLINVAR
MedGen C0009782 CLINVAR
  C0013720 CLINVAR
  C0268335 CLINVAR
  C3661900 CLINVAR
  C5543412 CLINVAR
  CN169374 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR
  130000 CLINVAR
  619329 CLINVAR
SNOMED CT 398114001 CLINVAR
  83470009 CLINVAR