NM_014874.4(MFN2):c.1488C>T (p.Asp496=) AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 2, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003582869.2
Allele description [Variation Report for NM_014874.4(MFN2):c.1488C>T (p.Asp496=)]
NM_014874.4(MFN2):c.1488C>T (p.Asp496=)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 2
- Synonyms:
- Charcot-Marie-Tooth, Type 2
- Identifiers:
- MONDO: MONDO:0018993; MedGen: C0270914
-
Rattus norvegicus protocadherin alpha 10 (Pcdha10), mRNA
Rattus norvegicus protocadherin alpha 10 (Pcdha10), mRNAgi|2595976260|ref|NM_053939.2|Nucleotide
-
Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like (M...
Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like (MTHFD1L), transcript variant 3, mRNA; nuclear gene for mitochondrial productgi|1890317192|ref|NM_001242768.2|Nucleotide
-
AL639094 XGC-neurula Xenopus tropicalis cDNA clone TNeu023m20 5', mRNA sequence
AL639094 XGC-neurula Xenopus tropicalis cDNA clone TNeu023m20 5', mRNA sequencegi|38217769|gnl|dbEST|20321091|emb| 094.2|Nucleotide
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Last Updated: Sep 29, 2024