NM_024577.4(SH3TC2):c.1942C>T (p.Arg648Trp) AND Hereditary motor and sensory neuropathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 24, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001030761.5
Allele description [Variation Report for NM_024577.4(SH3TC2):c.1942C>T (p.Arg648Trp)]
NM_024577.4(SH3TC2):c.1942C>T (p.Arg648Trp)
Condition(s)
- Name:
- Hereditary motor and sensory neuropathy
- Identifiers:
- MONDO: MONDO:0015358; MedGen: C0027888
-
Cinysca granulosa partial 28S rRNA gene, specimen voucher CGRA.RUF.2
Cinysca granulosa partial 28S rRNA gene, specimen voucher CGRA.RUF.2gi|90264745|emb|AM048725.1|Nucleotide
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Last Updated: Sep 29, 2024