NM_014845.6(FIG4):c.121A>G (p.Ile41Val) AND Charcot-Marie-Tooth disease type 4
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 26, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001065785.7
Allele description [Variation Report for NM_014845.6(FIG4):c.121A>G (p.Ile41Val)]
NM_014845.6(FIG4):c.121A>G (p.Ile41Val)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 4
- Synonyms:
- Charcot-Marie-Tooth, Type 4
- Identifiers:
- MONDO: MONDO:0018995; MedGen: C4082197
-
POU domain, class 5, transcription factor 1 isoform 1 [Mus musculus]
POU domain, class 5, transcription factor 1 isoform 1 [Mus musculus]gi|125490392|ref|NP_038661.2|Protein
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024