RGD:26898026 Rat Genome Database

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Variant: RGD:26898026 -  Homo sapiens

RGD ID: 26898026
RS ID: rs72648333
ClinVar ID: CV845633
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL1A1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 48,272,460
GRCh38 17 50,195,099
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1t1:c.1301G>C
NM_000088.4:c.1301G>C
LRG_1:g.11541G>C
NG_007400.1:g.11541G>C
More... 		03/14/2019 missense variant 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:NM_000088
Location:EXON

Gene Symbol:COL1A1
Accession:XM_011524341
Location:EXON

Gene Symbol:COL1A1
Accession:XM_005257058
Location:EXON

Gene Symbol:COL1A1
Accession:XM_005257059
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:7695699   PMID:8218237   PMID:9016532   PMID:17078022   PMID:19344236   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001070529 CLINVAR
dbSNP (RS) rs72648333 CLINVAR
MedGen C0023931 CLINVAR
NCBI Gene COL1A1 CLINVAR
OMIM 120150 CLINVAR
  166200 CLINVAR
SNOMED CT 385482004 CLINVAR