NM_014874.4(MFN2):c.*1258G>A AND Hereditary motor and sensory neuropathy with optic atrophy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000264181.5
Allele description [Variation Report for NM_014874.4(MFN2):c.*1258G>A]
NM_014874.4(MFN2):c.*1258G>A
Condition(s)
- Name:
- Hereditary motor and sensory neuropathy with optic atrophy
- Synonyms:
- CHARCOT-MARIE-TOOTH DISEASE, TYPE 6; PERIPHERAL NEUROPATHY AND OPTIC ATROPHY
- Identifiers:
- MONDO: MONDO:0019551; MedGen: C0393807
-
RecName: Full=Calpain-2 catalytic subunit; AltName: Full=Calcium-activated neutr...
RecName: Full=Calpain-2 catalytic subunit; AltName: Full=Calcium-activated neutral proteinase 2; Short=CANP 2; AltName: Full=Calpain M-type; AltName: Full=Calpain-2 large subunit; AltName: Full=Millimolar-calpain; Short=M-calpaingi|115582|sp|P06814.1|CAN2_RABITProtein
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023