RGD:15157396 Rat Genome Database

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Variant: RGD:15157396 -  Homo sapiens

RGD ID: 15157396
RS ID: rs775063630
ClinVar ID: CV689940
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 137,688,686
GRCh38 9 134,796,840
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000093.5:c.2845-8G>A
NM_001278074.1:c.2845-8G>A
NG_008030.1:g.160035G>A
NC_000009.12:g.134796840G>A
More... 		08/10/2023 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; none provided
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:COL5A1
Accession:NM_001278074
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_000093
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000868433 CLINVAR
  RCV002235176 CLINVAR
  RCV003330978 CLINVAR
dbSNP (RS) rs775063630 CLINVAR
MedGen C0268335 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR
  130000 CLINVAR
SNOMED CT 83470009 CLINVAR