NM_014874.4(MFN2):c.696C>G (p.Thr232=) AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001468800.13
Allele description [Variation Report for NM_014874.4(MFN2):c.696C>G (p.Thr232=)]
NM_014874.4(MFN2):c.696C>G (p.Thr232=)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 2
- Synonyms:
- Charcot-Marie-Tooth, Type 2
- Identifiers:
- MONDO: MONDO:0018993; MedGen: C0270914
-
putative ATP-dependent RNA helicase TDRD12 isoform 2 [Homo sapiens]
putative ATP-dependent RNA helicase TDRD12 isoform 2 [Homo sapiens]gi|161016765|ref|NP_001104292.1|Protein
-
BX742832 XGC-tadpole Xenopus tropicalis cDNA clone TTpA030a05 5', mRNA sequence
BX742832 XGC-tadpole Xenopus tropicalis cDNA clone TTpA030a05 5', mRNA sequencegi|38415572|gnl|dbEST|20459966|emb| 832.1|Nucleotide
-
LOC107580414 [Sinocyclocheilus grahami]
LOC107580414 [Sinocyclocheilus grahami]Gene ID:107580414Gene
-
Blakea hirsutissima (33)
Taxonomy
-
CBTA2730.b1 NICHD_XGC_tropPanc1 Xenopus tropicalis cDNA clone IMAGE:8875141 5', ...
CBTA2730.b1 NICHD_XGC_tropPanc1 Xenopus tropicalis cDNA clone IMAGE:8875141 5', mRNA sequencegi|133772664|gnl|dbEST|45205585|gb| 645.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024