RGD:8690649 Rat Genome Database

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Variant: RGD:8690649 -  Homo sapiens

RGD ID: 8690649
RS ID: rs11792181
ClinVar ID: CV140600
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 137,710,837
GRCh38 9 134,818,991
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.4393-9C>T
NG_008030.1:g.182186C>T
NC_000009.12:g.134818991C>T
NC_000009.11:g.137710837C>T
More... 		12/31/2019 intron variant benign|likely benign childhood 1-9 / 100 000 AllHighlyPenetrant; 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

Variant Details
Variant Transcripts
Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_000093
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_001278074
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000124456 CLINVAR
  RCV000406682 CLINVAR
  RCV001507119 CLINVAR
  RCV001812016 CLINVAR
  RCV002269899 CLINVAR
  RCV002277210 CLINVAR
dbSNP (RS) rs11792181 CLINVAR
MedGen C0013720 CLINVAR
  C0268335 CLINVAR
  C3508773 CLINVAR
  C3661900 CLINVAR
  C5543412 CLINVAR
  CN169374 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR
  130000 CLINVAR
  619329 CLINVAR
SNOMED CT 398114001 CLINVAR
  83470009 CLINVAR