RGD:150476330 Rat Genome Database

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Variant: RGD:150476330 -  Homo sapiens

RGD ID: 150476330
RS ID: rs7576514
ClinVar ID: CV1251844
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACVR1C  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 158,395,079
GRCh38 2 157,538,567
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001111032.2:c.1116+6G>C
NM_001111031.2:c.1206+6G>C
NM_145259.3:c.1356+6G>C
NM_001111033.2:c.885+6G>C
More...
06/09/2021 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ACVR1C
Accession:NM_001111033
Location:INTRON

Gene Symbol:ACVR1C
Accession:NM_001111032
Location:INTRON

Gene Symbol:ACVR1C
Accession:NM_145259
Location:INTRON

Gene Symbol:ACVR1C
Accession:NM_001111031
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001672043 CLINVAR
dbSNP (RS) rs7576514 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ACVR1C CLINVAR
OMIM 608981 CLINVAR