NM_000399.5(EGR2):c.1009G>C (p.Glu337Gln) AND Charcot-Marie-Tooth disease, type I
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 21, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001372831.6
Allele description [Variation Report for NM_000399.5(EGR2):c.1009G>C (p.Glu337Gln)]
NM_000399.5(EGR2):c.1009G>C (p.Glu337Gln)
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
-
LOC105484755 [Macaca nemestrina]
LOC105484755 [Macaca nemestrina]Gene ID:105484755Gene
-
HAO2 [Bison bison bison]
HAO2 [Bison bison bison]Gene ID:104993820Gene
-
SULT1D1P sulfotransferase family 1D member 1, pseudogene [Homo sapiens]
SULT1D1P sulfotransferase family 1D member 1, pseudogene [Homo sapiens]Gene ID:133150Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024