NM_000399.5(EGR2):c.1053C>T (p.Phe351=) AND Charcot-Marie-Tooth disease, type I
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001452413.7
Allele description [Variation Report for NM_000399.5(EGR2):c.1053C>T (p.Phe351=)]
NM_000399.5(EGR2):c.1053C>T (p.Phe351=)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease, type I (CMT1)
- Synonyms:
- Charcot-Marie-Tooth Neuropathy Type 1; Hereditary Motor and Sensory Neuropathy 1; Charcot-Marie-Tooth, Type 1
- Identifiers:
- MONDO: MONDO:0019011; MedGen: C0751036
-
Mus musculus steroid receptor RNA activator 1 (Sra1), transcript variant 1, mRNA
Mus musculus steroid receptor RNA activator 1 (Sra1), transcript variant 1, mRNAgi|257096047|ref|NM_025291.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024