RGD:126734307 Rat Genome Database

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Variant: RGD:126734307 -  Homo sapiens

RGD ID: 126734307
RS ID: rs376981154
ClinVar ID: CV988272
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A2  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 189,948,706
GRCh38 2 189,083,980
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_738t1:c.852+4A>T
NM_000393.5:c.852+4A>T
LRG_738:g.146322A>T
NC_000002.12:g.189083980T>A
More... 		06/21/2020 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_047443251
Location:INTRON

Gene Symbol:COL5A2
Accession:XM_047443252
Location:INTRON

Gene Symbol:COL5A2
Accession:XM_011510573
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002241748 CLINVAR
dbSNP (RS) rs376981154 CLINVAR
MedGen C0268335 CLINVAR
NCBI Gene COL5A2 CLINVAR
OMIM 120190 CLINVAR
  130000 CLINVAR
SNOMED CT 83470009 CLINVAR