NM_014874.4(MFN2):c.1141A>G (p.Met381Val) AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001322593.7
Allele description [Variation Report for NM_014874.4(MFN2):c.1141A>G (p.Met381Val)]
NM_014874.4(MFN2):c.1141A>G (p.Met381Val)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 2
- Synonyms:
- Charcot-Marie-Tooth, Type 2
- Identifiers:
- MONDO: MONDO:0018993; MedGen: C0270914
-
TGFB2 [Phaethon lepturus]
TGFB2 [Phaethon lepturus]Gene ID:104619128Gene
-
kirrel3b [Poecilia formosa]
kirrel3b [Poecilia formosa]Gene ID:103145345Gene
-
Adrenocortical Adenoma
Adrenocortical AdenomaA benign neoplasm of the ADRENAL CORTEX. It is characterized by a well-defined nodular lesion, usually less than 2.5 cm. Most adrenocortical adenomas are nonfunctional. The fu...<br/>Year introduced: 2005 (1994)MeSH
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024