RGD:402495575 Rat Genome Database

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Variant: RGD:402495575 -  Homo sapiens

RGD ID: 402495575
ClinVar ID: CV3021471
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACSF3  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 89,212,345
GRCh38 16 89,145,937
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.1502-1G>C
NM_001243279.3:c.1502-1G>C
NM_174917.5:c.1502-1G>C
NM_001284316.2:c.707-1G>C
More... 		01/20/2024 splice acceptor variant likely pathogenic Combined malonic and methylmalonic aciduria
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACSF3
Accession:NM_001284316
Location:INTRON

Gene Symbol:ACSF3
Accession:NM_001243279
Location:INTRON

Gene Symbol:ACSF3
Accession:NM_001127214
Location:INTRON

Gene Symbol:ACSF3
Accession:NM_174917
Location:INTRON

Gene Symbol:ACSF3
Accession:NR_147928
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_045667
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:21841779   PMID:26827111   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003644329 CLINVAR
MedGen C3280314 CLINVAR
NCBI Gene ACSF3 CLINVAR
OMIM 614245 CLINVAR
  614265 CLINVAR