NM_006859.4(LIAS):c.616A>G (p.Lys206Glu) AND Lipoic acid synthetase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 31, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001232815.5
Allele description [Variation Report for NM_006859.4(LIAS):c.616A>G (p.Lys206Glu)]
NM_006859.4(LIAS):c.616A>G (p.Lys206Glu)
Condition(s)
-
Hand dermatosis
Hand dermatosisMedGen
-
D006229 (1)
MedGen
-
Homo sapiens sirtuin 3 (SIRT3), transcript variant 1, mRNA
Homo sapiens sirtuin 3 (SIRT3), transcript variant 1, mRNAgi|157671924|ref|NM_012239.5|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 7, 2023