NM_001352514.2(HLCS):c.744C>G (p.Leu248=) AND Holocarboxylase synthetase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001409655.7
Allele description [Variation Report for NM_001352514.2(HLCS):c.744C>G (p.Leu248=)]
NM_001352514.2(HLCS):c.744C>G (p.Leu248=)
Condition(s)
-
rpl6 [Wiesnerella denudata]
rpl6 [Wiesnerella denudata]Gene ID:63348789Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024