RGD:12911999 Rat Genome Database

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Variant: RGD:12911999 -  Homo sapiens

RGD ID: 12911999
RS ID: rs1114167410
ClinVar ID: CV414023
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL1A1  LOC126862586  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 48,274,423
GRCh38 17 50,197,062
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
LRG_1t1:c.752G>A
LRG_1:g.9578G>A
NG_007400.1:g.9578G>A
NC_000017.11:g.50197062C>T
More... 		missense variant pathogenic 1-5 / 10 000 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_011524341
Location:EXON

Gene Symbol:COL1A1
Accession:XM_005257059
Location:EXON

Gene Symbol:COL1A1
Accession:XM_005257058
Location:EXON

Gene Symbol:COL1A1
Accession:NM_000088
Location:EXON

Variant Samples
Additional References at PubMed
PMID:25944380  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000490695 CLINVAR
dbSNP (RS) rs1114167410 CLINVAR
MedGen C0023931 CLINVAR
NCBI Gene COL1A1 CLINVAR
  LOC126862586 CLINVAR
OMIM 120150 CLINVAR
  166200 CLINVAR
SNOMED CT 385482004 CLINVAR