RGD:11580783 Rat Genome Database

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Variant: RGD:11580783 -  Homo sapiens

RGD ID: 11580783
RS ID: rs200744314
ClinVar ID: CV266139
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL1A2  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 94,035,620
GRCh38 7 94,406,308
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_2t1:c.594+5A>T
LRG_2:g.16748A>T
NG_007405.1:g.16748A>T
NC_000007.14:g.94406308A>T
More... 		12/31/2019 intron variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided infancy <1 / 1 000 000 AllHighlyPenetrant; Arthrochalasis multiplex congenita; ED syndrome; EDS I; EDS VII, MUTANT PROCOLLAGEN TYPE; EDS VIIA; EDS7A (formerly); EDS7B (formerly); Ehlers-Danlos syndrome arthrochalasia type; Ehlers-Danlos syndrome type 7A (formerly); Ehlers-Danlos syndrome type 7B (formerly); EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1; Ehlers-Danlos syndrome, arthrochalasis type; Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form; EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE; 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; EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT; Lobstein disease; Lobstein's Disease; none provided; OI type 1; OI type 1A; OI type 2A; OI type IIA; OI, TYPE I; OI, TYPE II; Osteogenesis imperfecta congenita; Osteogenesis imperfecta congenita perinatal lethal form; Osteogenesis imperfecta tarda; Osteogenesis imperfecta type 1; Osteogenesis imperfecta type 1 with dentinogenesis imperfecta; Osteogenesis imperfecta type 1A; Osteogenesis imperfecta Type 2; Osteogenesis imperfecta type 2A; Osteogenesis Imperfecta Type IIA; Osteogenesis imperfecta with blue sclerae; Osteogenesis imperfecta with opalescent teeth; OSTEOGENESIS IMPERFECTA, TYPE II; PROALBUMIN CHRISTCHURCH; Vrolik type of osteogenesis imperfecta

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000299692 CLINVAR
  RCV000344198 CLINVAR
  RCV000403517 CLINVAR
  RCV000542025 CLINVAR
  RCV000709887 CLINVAR
  RCV001086919 CLINVAR
  RCV002278268 CLINVAR
  RCV002356368 CLINVAR
dbSNP (RS) rs200744314 CLINVAR
MedGen C0013720 CLINVAR
  C0023931 CLINVAR
  C0029434 CLINVAR
  C0268358 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
  CN293783 CLINVAR
NCBI Gene COL1A2 CLINVAR
OMIM 120160 CLINVAR
  130000 CLINVAR
  130060 CLINVAR
  166200 CLINVAR
  166210 CLINVAR
  225320 CLINVAR
  617821 CLINVAR
SNOMED CT 385482004 CLINVAR
  398114001 CLINVAR
  78314001 CLINVAR
  86470003 CLINVAR