NM_014874.4(MFN2):c.2070-6C>A AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001920315.6
Allele description [Variation Report for NM_014874.4(MFN2):c.2070-6C>A]
NM_014874.4(MFN2):c.2070-6C>A
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 2
- Synonyms:
- Charcot-Marie-Tooth, Type 2
- Identifiers:
- MONDO: MONDO:0018993; MedGen: C0270914
-
Outer arm dynein light chain 1 protein [Arabidopsis thaliana]
Outer arm dynein light chain 1 protein [Arabidopsis thaliana]gi|186511493|ref|NP_001118925.1|Protein
-
Homo sapiens mitoguardin 1 (MIGA1), transcript variant 3, mRNA
Homo sapiens mitoguardin 1 (MIGA1), transcript variant 3, mRNAgi|1391723770|ref|NM_001363583.1|Nucleotide
-
JGI_CAAQ5749.rev NIH_XGC_tropHrt1 Xenopus tropicalis cDNA clone IMAGE:7726200 3'...
JGI_CAAQ5749.rev NIH_XGC_tropHrt1 Xenopus tropicalis cDNA clone IMAGE:7726200 3', mRNA sequencegi|58848976|gnl|dbEST|27715573|gb|D 36.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024