NM_001540.5(HSPB1):c.37G>A (p.Gly13Ser) AND Charcot-Marie-Tooth disease axonal type 2F
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 31, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000690988.6
Allele description [Variation Report for NM_001540.5(HSPB1):c.37G>A (p.Gly13Ser)]
NM_001540.5(HSPB1):c.37G>A (p.Gly13Ser)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease axonal type 2F (CMT2F)
- Synonyms:
- Charcot-Marie-Tooth disease type 2F; CMT 2F; Charcot-Marie-Tooth disease, neuronal, Type 2F; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011687; MedGen: C1847823; Orphanet: 99940; OMIM: 606595
-
RecName: Full=Neuronal acetylcholine receptor subunit beta-2; AltName: Full=Neur...
RecName: Full=Neuronal acetylcholine receptor subunit beta-2; AltName: Full=Neuronal acetylcholine receptor non-alpha-1 chain; Short=N-alpha 1; Flags: Precursorgi|6226548|sp|P12390.2|ACHB2_RATProtein
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Last Updated: Mar 5, 2024