RGD:28867819 Rat Genome Database

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Variant: RGD:28867819 -  Homo sapiens

RGD ID: 28867819
RS ID: rs371954727
ClinVar ID: CV900472
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMP1  LOC127458867  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 22,054,740
GRCh38 8 22,197,227
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006129.4:c.1927-13G>A
NC_000008.10:g.22054740G>A
NM_001199.4:c.1927-13G>A
NM_006129.5:c.1927-13G>A
More... 		02/28/2023 intron variant likely benign|uncertain significance none provided; OI, TYPE XIII; Osteogenesis imperfecta, type xiii
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BMP1
Accession:NM_006129
Location:INTRON

Gene Symbol:BMP1
Accession:NM_001199
Location:INTRON

Gene Symbol:BMP1
Accession:NR_033403
Location:INTRON;NON-CODING

Gene Symbol:BMP1
Accession:NR_033404
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001162107 CLINVAR
  RCV002071010 CLINVAR
dbSNP (RS) rs371954727 CLINVAR
MedGen C3553887 CLINVAR
  C3661900 CLINVAR
NCBI Gene BMP1 CLINVAR
OMIM 112264 CLINVAR
  614856 CLINVAR