RGD:402487057 Rat Genome Database

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Variant: RGD:402487057 -  Homo sapiens

RGD ID: 402487057
ClinVar ID: CV3077131
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACSF3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 89,187,191
GRCh38 16 89,120,783
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001127214.4:c.1127-18G>A
NM_001243279.3:c.1127-18G>A
NM_174917.5:c.1127-18G>A
NM_001284316.2:c.332-18G>A
More... 		06/12/2023 intron variant likely benign Combined malonic and methylmalonic aciduria
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACSF3
Accession:NM_001127214
Location:INTRON

Gene Symbol:ACSF3
Accession:NM_001284316
Location:INTRON

Gene Symbol:ACSF3
Accession:NM_174917
Location:INTRON

Gene Symbol:ACSF3
Accession:NM_001243279
Location:INTRON

Gene Symbol:ACSF3
Accession:NR_045667
Location:INTRON;NON-CODING

Gene Symbol:ACSF3
Accession:NR_147929
Location:INTRON;NON-CODING

Gene Symbol:ACSF3
Accession:NR_104293
Location:INTRON;NON-CODING

Gene Symbol:ACSF3
Accession:NR_147928
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003643431 CLINVAR
MedGen C3280314 CLINVAR
NCBI Gene ACSF3 CLINVAR
OMIM 614245 CLINVAR
  614265 CLINVAR