NM_024577.4(SH3TC2):c.1842C>T (p.Asp614=) AND Charcot-Marie-Tooth disease type 4
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000229845.13
Allele description [Variation Report for NM_024577.4(SH3TC2):c.1842C>T (p.Asp614=)]
NM_024577.4(SH3TC2):c.1842C>T (p.Asp614=)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 4
- Synonyms:
- Charcot-Marie-Tooth, Type 4
- Identifiers:
- MONDO: MONDO:0018995; MedGen: C4082197
-
Homo sapiens chromosome 19, BAC 37295 (CIT-B-21A4), complete sequence
Homo sapiens chromosome 19, BAC 37295 (CIT-B-21A4), complete sequencegi|4567177|gnl|LLNL-HGS|BKB|gb|AC00 1|Nucleotide
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Last Updated: Sep 16, 2024