RGD:8690695 Rat Genome Database

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Variant: RGD:8690695 -  Homo sapiens

RGD ID: 8690695
RS ID: rs141571092
ClinVar ID: CV140646
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 189,925,516
GRCh38 2 189,060,790
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
NC_000002.12:g.189060790C>T
NC_000002.11:g.189925516C>T
NM_000393.3:c.2032-7G>A
NM_000393.5:c.2032-7G>A
More... 		02/11/2019 intron variant likely pathogenic|benign|likely benign childhood|neonatal 1-9 / 100 000 AllHighlyPenetrant; Connective tissue disease; ED syndrome; EDS I; Ehlers-Danlos syndrome type 2 (formerly); Ehlers-Danlos syndrome, classic type I; EHLERS-DANLOS SYNDROME, GRAVIS TYPE; EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE; Ehlers-Danlos syndrome, type 1; Ehlers-Danlos syndrome, type 2; none provided

Variant Details
Variant Transcripts
Gene Symbol:COL5A2
Accession:XM_047443251
Location:INTRON

Gene Symbol:COL5A2
Accession:XM_047443252
Location:INTRON

Gene Symbol:COL5A2
Accession:XM_011510573
Location:INTRON

Gene Symbol:COL5A2
Accession:NM_000393
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000124502 CLINVAR
  RCV000228811 CLINVAR
  RCV000262410 CLINVAR
  RCV000659477 CLINVAR
  RCV001137176 CLINVAR
  RCV001725983 CLINVAR
  RCV002277232 CLINVAR
dbSNP (RS) rs141571092 CLINVAR
MedGen C0009782 CLINVAR
  C0013720 CLINVAR
  C0268335 CLINVAR
  C0268336 CLINVAR
  C3508773 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene COL5A2 CLINVAR
OMIM 120190 CLINVAR
  130000 CLINVAR
  130010 CLINVAR
SNOMED CT 20766005 CLINVAR
  398114001 CLINVAR
  83470009 CLINVAR