RGD:150495770 Rat Genome Database

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Variant: RGD:150495770 -  Homo sapiens

RGD ID: 150495770
RS ID: rs76651097
ClinVar ID: CV1283058
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACVR1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 158,630,419
GRCh38 2 157,773,907
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.643+181T>A
NM_001111067.4:c.643+181T>A
NM_001347663.1:c.643+181T>A
NM_001347664.1:c.643+181T>A
More... 		05/19/2021 intron variant benign none provided

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 Information

Database Acc Id Source(s)
ClinVar RCV001717460 CLINVAR
dbSNP (RS) rs76651097 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ACVR1 CLINVAR
OMIM 102576 CLINVAR