RGD:152124917 Rat Genome Database

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Variant: RGD:152124917 -  Homo sapiens

RGD ID: 152124917
RS ID: rs758006385
ClinVar ID: CV1532250
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL1A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 48,271,919
GRCh38 17 50,194,558
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.1515+15C>T
LRG_1:g.12082C>T
NG_007400.1:g.12082C>T
NC_000017.11:g.50194558G>A
More... 		03/16/2021 intron variant likely benign 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:INTRON

Gene Symbol:COL1A1
Accession:NM_000088
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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002118325 CLINVAR
  RCV003951201 CLINVAR
dbSNP (RS) rs758006385 CLINVAR
MedGen C0023931 CLINVAR
NCBI Gene COL1A1 CLINVAR
OMIM 120150 CLINVAR
  166200 CLINVAR
SNOMED CT 385482004 CLINVAR