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:
- RCV000468245.8
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
-
PREDICTED: Lagopus muta alkaline ceramidase 1 (ACER1), mRNA
PREDICTED: Lagopus muta alkaline ceramidase 1 (ACER1), mRNAgi|2266291363|ref|XM_048927940.1|Nucleotide
-
104700[uid] AND (alive[prop]) (0)
Gene
-
E3 ubiquitin-protein ligase SINAT5 isoform X1 [Cucumis melo]
E3 ubiquitin-protein ligase SINAT5 isoform X1 [Cucumis melo]gi|659133620|ref|XP_008466823.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024