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 [Variation Report for NM_001540.5(HSPB1):c.202G>C (p.Val68Leu)]
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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Novosphingobium barchaimii strain SZN211 16S ribosomal RNA gene, partial sequenc...
Novosphingobium barchaimii strain SZN211 16S ribosomal RNA gene, partial sequencegi|1951972308|gb|MW433633.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024