RGD:156418952 Rat Genome Database

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Variant: RGD:156418952 -  Homo sapiens

RGD ID: 156418952
ClinVar ID: CV1919047
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MACF1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 39,783,082
GRCh38 1 39,317,410
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.3782+3G>C
NM_012090.5:c.3797+3G>C
NG_050926.1:g.240994G>C
NC_000001.11:g.39317410G>C
More... 		02/18/2022 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:MACF1
Accession:NM_012090
Location:INTRON

Gene Symbol:MACF1
Accession:NM_001394062
Location:INTRON

Gene Symbol:MACF1
Accession:NM_001397473
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002612163 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MACF1 CLINVAR
OMIM 608271 CLINVAR