RGD:405180632 Rat Genome Database

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Variant: RGD:405180632 -  Homo sapiens

RGD ID: 405180632
ClinVar ID: CV3027824
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MACF1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 39,815,310
GRCh38 1 39,349,638
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001394062.1:c.10965+11A>C
NM_012090.5:c.4779+11A>C
NG_050926.1:g.273222A>C
NC_000001.11:g.39349638A>C
More... 		08/27/2023 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MACF1
Accession:NM_001397473
Location:INTRON

Gene Symbol:MACF1
Accession:NM_012090
Location:INTRON

Gene Symbol:MACF1
Accession:NM_001394062
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003705493 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MACF1 CLINVAR
OMIM 608271 CLINVAR