RGD:13520420 Rat Genome Database

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Variant: RGD:13520420 -  Homo sapiens

RGD ID: 13520420
RS ID: rs72656363
ClinVar ID: CV495362
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: COL1A2  
Reference Nucleotide: AGTA
Variant Nucleotide: ----
Position
Assembly Chr Position
GRCh37 7 94,034,205 - 94,034,209
GRCh38 7 94,404,893 - 94,404,897
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000089.3:c.432+4_432+7delAGTA
NM_000089.3:c.432+4_432+7del
LRG_2t1:c.432+4_432+7del
NC_000007.14:g.94404896_94404899del
More... 		08/25/2019 intron variant|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:9536098   PMID:17078022   PMID:17576681   PMID:23692737   PMID:28492532   PMID:31141158   PMID:31794058  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000598625 CLINVAR
  RCV000985047 CLINVAR
  RCV002232565 CLINVAR
dbSNP (RS) rs72656363 CLINVAR
MedGen C0023931 CLINVAR
  C3661900 CLINVAR
NCBI Gene COL1A2 CLINVAR
OMIM 120160 CLINVAR
  130000 CLINVAR
  166200 CLINVAR
SNOMED CT 385482004 CLINVAR