NM_000543.5(SMPD1):c.375G>A (p.Leu125=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003786990.1
Allele description
NM_000543.5(SMPD1):c.375G>A (p.Leu125=)
Condition(s)
-
cytochrome c oxidase subunit 1, partial (mitochondrion) [Ophion sp. MS8499]
cytochrome c oxidase subunit 1, partial (mitochondrion) [Ophion sp. MS8499]gi|692516939|gb|AIS23322.1|Protein
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024