NM_001540.5(HSPB1):c.202G>C (p.Val68Leu) AND Charcot-Marie-Tooth disease axonal type 2F
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000468245.7
Allele description
NM_001540.5(HSPB1):c.202G>C (p.Val68Leu)
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
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Enterococcus columbae DSM 7374 = ATCC 51263 acyDG-supercont2.1, whole genome sho...
Enterococcus columbae DSM 7374 = ATCC 51263 acyDG-supercont2.1, whole genome shotgun sequencegi|510932010|ref|NZ_KE136491.1||gnl NZ_ASWJ01|acyDG-supercont2.1Nucleotide
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Last Updated: Feb 20, 2024