RGD:40906952 Rat Genome Database

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Variant: RGD:40906952 -  Homo sapiens

RGD ID: 40906952
RS ID: rs773327286
ClinVar ID: CV979861
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACSF3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 89,199,678
GRCh38 16 89,133,270
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001284316.2:c.571+8C>T
NG_031961.1:g.44462C>T
NM_001127214.4:c.1366+8C>T
NM_001243279.3:c.1366+8C>T
More... 		10/26/2020 intron variant likely benign|uncertain significance Combined malonic and methylmalonic aciduria; Isolated Methylmalonic Acidemia
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

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

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ACSF3
Accession:NM_001243279
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ACSF3
Accession:NM_001284316
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ACSF3
Accession:NM_174917
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

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

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001280412 CLINVAR
  RCV001395076 CLINVAR
dbSNP (RS) rs773327286 CLINVAR
MedGen C0268583 CLINVAR
  C3280314 CLINVAR
NCBI Gene ACSF3 CLINVAR
OMIM 614245 CLINVAR
  614265 CLINVAR
SNOMED CT 42393006 CLINVAR