RGD:12834083 Rat Genome Database

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Variant: RGD:12834083 -  Homo sapiens

RGD ID: 12834083
RS ID: rs371941850
ClinVar ID: CV370835
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 137,646,112
GRCh38 9 134,754,266
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.1774-7C>A
NG_008030.1:g.117461C>A
NC_000009.12:g.134754266C>A
NC_000009.11:g.137646112C>A
More... 		03/15/2022 intron variant benign|likely benign AllHighlyPenetrant; EDS I; Ehlers-Danlos syndrome, classic type I; EHLERS-DANLOS SYNDROME, GRAVIS TYPE; EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE; Ehlers-Danlos syndrome, type 1
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 RCV000419740 CLINVAR
  RCV002230235 CLINVAR
  RCV002270248 CLINVAR
  RCV003932556 CLINVAR
dbSNP (RS) rs371941850 CLINVAR
MedGen C0268335 CLINVAR
  C5543412 CLINVAR
  CN169374 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR
  130000 CLINVAR
  619329 CLINVAR
SNOMED CT 83470009 CLINVAR