RGD:38487099 Rat Genome Database

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Variant: RGD:38487099 -  Homo sapiens

RGD ID: 38487099
RS ID: rs73978832
ClinVar ID: CV959616
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 189,943,304
GRCh38 2 189,078,578
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000393.5:c.1006-9C>G
NG_011799.3:g.151724C>G
NC_000002.12:g.189078578G>C
NC_000002.11:g.189943304G>C
More... 		08/13/2019 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:COL5A2
Accession:NM_000393
Location:INTRON

Gene Symbol:COL5A2
Accession:XM_047443252
Location:INTRON

Gene Symbol:COL5A2
Accession:XM_047443251
Location:INTRON

Gene Symbol:COL5A2
Accession:XM_011510573
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002241507 CLINVAR
dbSNP (RS) rs73978832 CLINVAR
MedGen C0268335 CLINVAR
NCBI Gene COL5A2 CLINVAR
OMIM 120190 CLINVAR
  130000 CLINVAR
SNOMED CT 83470009 CLINVAR