NM_001540.5(HSPB1):c.16G>A (p.Val6Ile) AND Charcot-Marie-Tooth disease axonal type 2F
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 18, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001087087.9
Allele description [Variation Report for NM_001540.5(HSPB1):c.16G>A (p.Val6Ile)]
NM_001540.5(HSPB1):c.16G>A (p.Val6Ile)
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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Profile neighbors for GEO Profiles (Select 103781485) (48)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 103787987) (20)
GEO Profiles
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Nucleotide Links for Protein (Select 688598320) (2)
Nucleotide
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STAG1 STAG1 cohesin complex component [Homo sapiens]
STAG1 STAG1 cohesin complex component [Homo sapiens]Gene ID:10274Gene
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Gene Links for GEO Profiles (Select 103773978) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024