NM_001540.5(HSPB1):c.365-7C>G AND Charcot-Marie-Tooth disease axonal type 2F
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000543506.11
Allele description [Variation Report for NM_001540.5(HSPB1):c.365-7C>G]
NM_001540.5(HSPB1):c.365-7C>G
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
-
Mus musculus TBC1 domain family, member 17 (Tbc1d17), transcript variant 1, mRNA
Mus musculus TBC1 domain family, member 17 (Tbc1d17), transcript variant 1, mRNAgi|2499879462|ref|NM_001042655.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024