RGD:10409195 Rat Genome Database

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Variant: RGD:10409195 -  Homo sapiens

RGD ID: 10409195
RS ID: rs766796504
ClinVar ID: CV210090
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 137,707,474
GRCh38 9 134,815,628
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.4067C>T
NG_008030.1:g.178823C>T
NC_000009.12:g.134815628C>T
NC_000009.11:g.137707474C>T
More... 		01/13/2024 missense variant likely pathogenic|uncertain significance 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; Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL5A1
Accession:NM_000093
Location:EXON

Gene Symbol:COL5A1
Accession:NM_001278074
Location:EXON

Gene Symbol:COL5A1
Accession:XM_017014266
Location:EXON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000195625 CLINVAR
  RCV002229076 CLINVAR
  RCV002321786 CLINVAR
dbSNP (RS) rs766796504 CLINVAR
MedGen C0268335 CLINVAR
  C3661900 CLINVAR
  C4707243 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR
  130000 CLINVAR
SNOMED CT 83470009 CLINVAR