RGD:151770223 Rat Genome Database

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Variant: RGD:151770223 -  Homo sapiens

RGD ID: 151770223
RS ID: rs72667027
ClinVar ID: CV1424842
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL1A1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 48,275,365
GRCh38 17 50,198,004
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000088.4:c.589-2A>G
LRG_1:g.8636A>G
NG_007400.1:g.8636A>G
NC_000017.11:g.50198004T>C
More... 		07/13/2021 splice acceptor variant 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:NM_000088
Location:INTRON

Gene Symbol:COL1A1
Accession:XM_011524341
Location:INTRON

Gene Symbol:COL1A1
Accession:XM_005257058
Location:INTRON

Gene Symbol:COL1A1
Accession:XM_005257059
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:7942841   PMID:9295084   PMID:9443882   PMID:16199547   PMID:16786509   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001874377 CLINVAR
dbSNP (RS) rs72667027 CLINVAR
MedGen C0023931 CLINVAR
NCBI Gene COL1A1 CLINVAR
OMIM 120150 CLINVAR
  166200 CLINVAR
SNOMED CT 385482004 CLINVAR