RGD:155644638 Rat Genome Database

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Variant: RGD:155644638 -  Homo sapiens

RGD ID: 155644638
ClinVar ID: CV1708193
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  LOC124902301  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 137,664,683
GRCh38 9 134,772,837
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.12:g.134772837G>C
NC_000009.11:g.137664683G>C
NM_000093.5:c.2331+3G>C
NM_001278074.1:c.2331+3G>C
More... 		06/25/2021 intron variant 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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL5A1
Accession:NM_001278074
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_000093
Location:INTRON

Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

Gene Symbol:LOC124902301
Accession:XR_007061843
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002290182 CLINVAR
MedGen C0268335 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR
  130000 CLINVAR
SNOMED CT 83470009 CLINVAR