RGD:10409853 Rat Genome Database

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Variant: RGD:10409853 -  Homo sapiens

RGD ID: 10409853
RS ID: rs201920777
ClinVar ID: CV210084
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 137,705,881
GRCh38 9 134,814,035
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.3905C>T
NG_008030.1:g.177230C>T
NC_000009.12:g.134814035C>T
NC_000009.11:g.137705881C>T
More... 		06/01/2021 missense variant likely benign|uncertain significance 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
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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000196987 CLINVAR
  RCV002228835 CLINVAR
  RCV002277467 CLINVAR
dbSNP (RS) rs201920777 CLINVAR
MedGen C0013720 CLINVAR
  C0268335 CLINVAR
  C3661900 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR
  130000 CLINVAR
SNOMED CT 398114001 CLINVAR
  83470009 CLINVAR