NM_030962.4(SBF2):c.2436C>T (p.Ala812=) AND Charcot-Marie-Tooth disease type 4
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001440276.13
Allele description
NM_030962.4(SBF2):c.2436C>T (p.Ala812=)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 4
- Synonyms:
- Charcot-Marie-Tooth, Type 4
- Identifiers:
- MONDO: MONDO:0018995; MedGen: C4082197
-
cytochrome oxidase subunit 1, partial (mitochondrion) [Aleiodes sp. MAHYM220-10]
cytochrome oxidase subunit 1, partial (mitochondrion) [Aleiodes sp. MAHYM220-10]gi|331171199|gb|AEC74736.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 16, 2024