RGD:8602816 Rat Genome Database

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Variant: RGD:8602816 -  Homo sapiens

RGD ID: 8602816
RS ID: rs193922158
ClinVar ID: CV44592
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL1A1  LOC126862586  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 48,274,426
GRCh38 17 50,197,065
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1t1:c.751-2A>G
LRG_1:g.9575A>G
NG_007400.1:g.9575A>G
NC_000017.11:g.50197065T>C
More... 		10/28/2022 splice acceptor variant|splice-3 pathogenic|likely pathogenic Lobstein disease; Lobstein's Disease; 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:COL1A1
Accession:XM_005257058
Location:INTRON

Gene Symbol:COL1A1
Accession:XM_005257059
Location:INTRON

Gene Symbol:COL1A1
Accession:XM_011524341
Location:INTRON

Gene Symbol:COL1A1
Accession:NM_000088
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:7942841   PMID:9295084   PMID:9443882   PMID:16199547   PMID:25963598   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000029583 CLINVAR
  RCV000798967 CLINVAR
dbSNP (RS) rs193922158 CLINVAR
MedGen C0023931 CLINVAR
  C0029434 CLINVAR
NCBI Gene COL1A1 CLINVAR
  LOC126862586 CLINVAR
OMIM 120150 CLINVAR
  166200 CLINVAR
SNOMED CT 385482004 CLINVAR
  78314001 CLINVAR