RGD:11578640 Rat Genome Database

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Variant: RGD:11578640 -  Homo sapiens

RGD ID: 11578640
RS ID: rs12105152
ClinVar ID: CV285029
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACVR1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 158,630,593
GRCh38 2 157,774,081
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008004.1:g.106031C>T
NC_000002.12:g.157774081G>A
NC_000002.11:g.158630593G>A
NM_001111067.4:c.643+7C>T
More...
12/05/2021 intron variant benign|likely benign childhood <1 / 1 000 000 Myositis ossificans progressiva; none provided; Progressive ossifying myositis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACVR1
Accession:NM_001105
Location:INTRON

Gene Symbol:ACVR1
Accession:NM_001111067
Location:INTRON

Gene Symbol:ACVR1
Accession:NM_001347665
Location:INTRON

Gene Symbol:ACVR1
Accession:NM_001347664
Location:INTRON

Gene Symbol:ACVR1
Accession:NM_001347666
Location:INTRON

Gene Symbol:ACVR1
Accession:NM_001347663
Location:INTRON

Gene Symbol:ACVR1
Accession:NM_001347667
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000286059 CLINVAR
  RCV000888454 CLINVAR
dbSNP (RS) rs12105152 CLINVAR
MedGen C0016037 CLINVAR
  C3661900 CLINVAR
NCBI Gene ACVR1 CLINVAR
OMIM 102576 CLINVAR
  135100 CLINVAR
SNOMED CT 82725007 CLINVAR