NM_000399.5(EGR2):c.929A>G (p.Tyr310Cys) AND Charcot-Marie-Tooth disease, type I
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003742539.2
Allele description [Variation Report for NM_000399.5(EGR2):c.929A>G (p.Tyr310Cys)]
NM_000399.5(EGR2):c.929A>G (p.Tyr310Cys)
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
-
Pueraria montana var. lobata isoprene synthase (IspS) gene, complete cds
Pueraria montana var. lobata isoprene synthase (IspS) gene, complete cdsgi|35187003|gb|AY316691.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024