RGD:12911252 Rat Genome Database

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Variant: RGD:12911252 -  Homo sapiens

RGD ID: 12911252
RS ID: rs72659310
ClinVar ID: CV413963
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL1A2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 94,054,976
GRCh38 7 94,425,664
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
LRG_2t1:c.2835+1G>A
LRG_2:g.36104G>A
NG_007405.1:g.36104G>A
NC_000007.14:g.94425664G>A
More... 		09/30/2021 splice donor variant pathogenic 1-5 / 10 000 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; OI type 1; OI type 1A; OI type 4; OI type IV; OI, TYPE I; Osteogenesis imperfecta tarda; Osteogenesis imperfecta type 1; Osteogenesis imperfecta type 1 with dentinogenesis imperfecta; Osteogenesis imperfecta type 1A; Osteogenesis imperfecta type 4; Osteogenesis Imperfecta Type IV; Osteogenesis imperfecta with blue sclerae; Osteogenesis imperfecta with normal sclerae; Osteogenesis imperfecta with opalescent teeth; OSTEOGENESIS IMPERFECTA, TYPE IV, WITH DENTINOGENESIS IMPERFECTA
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:15241796   PMID:16199547   PMID:25944380   PMID:26177859   PMID:28492532   PMID:29595812  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000490660 CLINVAR
  RCV000490726 CLINVAR
  RCV002231121 CLINVAR
  RCV003155210 CLINVAR
dbSNP (RS) rs72659310 CLINVAR
MedGen C0023931 CLINVAR
  C0268363 CLINVAR
NCBI Gene COL1A2 CLINVAR
OMIM 120160 CLINVAR
  130000 CLINVAR
  166200 CLINVAR
  166220 CLINVAR
SNOMED CT 205497004 CLINVAR
  385482004 CLINVAR