NM_001243279.3(ACSF3):c.342G>A (p.Ala114=) AND Combined malonic and methylmalonic acidemia
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Oct 29, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001497630.15
Allele description [Variation Report for NM_001243279.3(ACSF3):c.342G>A (p.Ala114=)]
NM_001243279.3(ACSF3):c.342G>A (p.Ala114=)
Condition(s)
-
Homo sapiens regucalcin (senescence marker protein-30) (RGN), transcript variant...
Homo sapiens regucalcin (senescence marker protein-30) (RGN), transcript variant 2, mRNAgi|23111020|ref|NM_152869.1|Nucleotide
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Homo sapiens regucalcin (senescence marker protein-30), mRNA (cDNA clone MGC:877...
Homo sapiens regucalcin (senescence marker protein-30), mRNA (cDNA clone MGC:87766 IMAGE:6186669), complete cdsgi|49118182|gb|BC073173.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024