NM_014874.4(MFN2):c.2182C>A (p.Gln728Lys) AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000653949.7
Allele description [Variation Report for NM_014874.4(MFN2):c.2182C>A (p.Gln728Lys)]
NM_014874.4(MFN2):c.2182C>A (p.Gln728Lys)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 2
- Synonyms:
- Charcot-Marie-Tooth, Type 2
- Identifiers:
- MONDO: MONDO:0018993; MedGen: C0270914
-
putative CtpA-like serine protease [candidate division SR1 bacterium Aalborg_AAW...
putative CtpA-like serine protease [candidate division SR1 bacterium Aalborg_AAW-1]gi|821341543|gnl|PRJNA280491|XF24_0 gb|AKH33117.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024