NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) AND multiple conditions
- Germline classification:
- not provided (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002508915.9
Allele description [Variation Report for NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)]
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
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
- Name:
- Charcot-Marie-Tooth disease, type 2A (CMT2A)
- Synonyms:
- Charcot-Marie-Tooth disease, axonal, Type 2A; Charcot-Marie-Tooth disease, neuronal, Type 2A; Hereditary motor and sensory neuropathy 2 A; See all synonyms [MedGen]
- Identifiers:
- MedGen: C2079538
-
MAG TPA_asm: Brevefilum sp. isolate SMAG_U7311, whole genome shotgun sequencing ...
MAG TPA_asm: Brevefilum sp. isolate SMAG_U7311, whole genome shotgun sequencing projectgi|2674604348|tpg|DATCSS000000000.1 SS010000000Nucleotide
-
MAG TPA_asm: Brevefilum sp. isolate CTOTU18497, whole genome shotgun sequencing ...
MAG TPA_asm: Brevefilum sp. isolate CTOTU18497, whole genome shotgun sequencing projectgi|2678056520|tpg|DAIMEQ000000000.1 EQ010000000Nucleotide
-
hypothetical protein [Cutibacterium acnes]
hypothetical protein [Cutibacterium acnes]gi|488487137|ref|WP_002530716.1|Protein
-
YafY family protein [Paenibacillus sp. JDR-2]
YafY family protein [Paenibacillus sp. JDR-2]gi|502362790|ref|WP_012772284.1|Protein
-
88224398[uid] AND (alive[prop]) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024