RGD:150462340 Rat Genome Database

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Variant: RGD:150462340 -  Homo sapiens

RGD ID: 150462340
RS ID: rs16842015
ClinVar ID: CV1253359
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACVR1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 158,617,814
GRCh38 2 157,761,302
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001105.5:c.1067-225T>C
NM_001111067.4:c.1067-225T>C
NM_001347664.1:c.1067-225T>C
NM_001347665.1:c.1067-225T>C
More... 		06/18/2021 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ACVR1
Accession:NM_001347664
Location:INTRON

Gene Symbol:ACVR1
Accession:NM_001347663
Location:INTRON

Gene Symbol:ACVR1
Accession:NM_001111067
Location:INTRON

Gene Symbol:ACVR1
Accession:NM_001105
Location:INTRON

Gene Symbol:ACVR1
Accession:NM_001347667
Location:INTRON

Gene Symbol:ACVR1
Accession:NM_001347665
Location:INTRON

Gene Symbol:ACVR1
Accession:NM_001347666
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001669688 CLINVAR
dbSNP (RS) rs16842015 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ACVR1 CLINVAR
OMIM 102576 CLINVAR