RGD:152082054 Rat Genome Database

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Variant: RGD:152082054 -  Homo sapiens

RGD ID: 152082054
RS ID: rs2144546220
ClinVar ID: CV1548377
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL1A1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 48,266,013
GRCh38 17 50,188,652
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.3100-15T>C
LRG_1:g.17988T>C
NG_007400.1:g.17988T>C
NC_000017.11:g.50188652A>G
More... 		01/30/2021 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_005257059
Location:INTRON

Gene Symbol:COL1A1
Accession:XM_005257058
Location:INTRON

Gene Symbol:COL1A1
Accession:NM_000088
Location:INTRON

Gene Symbol:COL1A1
Accession:XM_011524341
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002076500 CLINVAR
dbSNP (RS) rs2144546220 CLINVAR
MedGen C0023931 CLINVAR
NCBI Gene COL1A1 CLINVAR
OMIM 120150 CLINVAR
  166200 CLINVAR
SNOMED CT 385482004 CLINVAR