RGD:405012820 Rat Genome Database

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Variant: RGD:405012820 -  Homo sapiens

RGD ID: 405012820
ClinVar ID: CV3128224
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMP1  LOC127458865  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 22,031,241
GRCh38 8 22,173,728
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001199.4:c.262+13C>T
NM_006129.5:c.262+13C>T
NG_029659.1:g.13589C>T
NG_113634.1:g.219C>T
More... 		09/01/2023 intron variant likely benign none provided

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 RCV003829104 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene BMP1 CLINVAR
OMIM 112264 CLINVAR