NM_001352514.2(HLCS):c.1276G>A (p.Glu426Lys) AND Holocarboxylase synthetase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002616241.3
Allele description [Variation Report for NM_001352514.2(HLCS):c.1276G>A (p.Glu426Lys)]
NM_001352514.2(HLCS):c.1276G>A (p.Glu426Lys)
Condition(s)
-
Myotonia of the upper limb
Myotonia of the upper limbMedGen
-
C4022683[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024