NM_024577.4(SH3TC2):c.1921C>T (p.Arg641Cys) AND Charcot-Marie-Tooth disease type 4
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001296838.7
Allele description [Variation Report for NM_024577.4(SH3TC2):c.1921C>T (p.Arg641Cys)]
NM_024577.4(SH3TC2):c.1921C>T (p.Arg641Cys)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 4
- Synonyms:
- Charcot-Marie-Tooth, Type 4
- Identifiers:
- MONDO: MONDO:0018995; MedGen: C4082197
-
Homo sapiens delta/notch like EGF repeat containing (DNER), mRNA
Homo sapiens delta/notch like EGF repeat containing (DNER), mRNAgi|1519242397|ref|NM_139072.4|Nucleotide
-
Chain P, U1-A
Chain P, U1-Agi|315583607|pdb|3PGW|PProtein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024