RGD:13476043 Rat Genome Database

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Variant: RGD:13476043 -  Homo sapiens

RGD ID: 13476043
RS ID: rs1554396615
ClinVar ID: CV458060
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL1A2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 94,041,995
GRCh38 7 94,412,683
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.14:g.94412683G>C
LRG_2t1:c.1503+1G>C
LRG_2:g.23123G>C
NM_000089.4:c.1503+1G>C
More... 		05/03/2021 splice donor variant pathogenic|likely pathogenic EDS I; Ehlers-Danlos syndrome, classic type I; Ehlers-Danlos syndrome, classic type, 1; EHLERS-DANLOS SYNDROME, GRAVIS TYPE; EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE; Ehlers-Danlos syndrome, type 1; Lobstein disease; Lobstein's Disease; none provided; OI type 1; OI type 1A; OI, TYPE I; Osteogenesis imperfecta tarda; Osteogenesis imperfecta type 1; Osteogenesis imperfecta type 1 with dentinogenesis imperfecta; Osteogenesis imperfecta type 1A; Osteogenesis imperfecta with blue sclerae; Osteogenesis imperfecta with opalescent teeth
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL1A2
Accession:NM_000089
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:11288717   PMID:15077201   PMID:16199547   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001575496 CLINVAR
  RCV002231228 CLINVAR
dbSNP (RS) rs1554396615 CLINVAR
MedGen C0023931 CLINVAR
  C3661900 CLINVAR
NCBI Gene COL1A2 CLINVAR
OMIM 120160 CLINVAR
  130000 CLINVAR
  166200 CLINVAR
SNOMED CT 385482004 CLINVAR