RGD:401946346 Rat Genome Database

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Variant: RGD:401946346 -  Homo sapiens

RGD ID: 401946346
ClinVar ID: CV2839427
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MACF1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 39,696,917
GRCh38 1 39,231,245
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.171+2T>C
NM_012090.5:c.282+2T>C
NG_050926.1:g.154829T>C
NC_000001.11:g.39231245T>C
More... 		10/10/2023 splice donor variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MACF1
Accession:NM_001394062
Location:INTRON

Gene Symbol:MACF1
Accession:NM_012090
Location:INTRON

Gene Symbol:MACF1
Accession:NM_001397473
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003458927 CLINVAR
MedGen C5193029 CLINVAR
NCBI Gene MACF1 CLINVAR
OMIM 608271 CLINVAR
  618325 CLINVAR