NM_000530.8(MPZ):c.313C>T (p.Pro105Ser) AND Charcot-Marie-Tooth disease, type I
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002008595.7
Allele description [Variation Report for NM_000530.8(MPZ):c.313C>T (p.Pro105Ser)]
NM_000530.8(MPZ):c.313C>T (p.Pro105Ser)
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
-
Homo sapiens ankyrin repeat and SOCS box-containing 3, mRNA (cDNA clone MGC:996 ...
Homo sapiens ankyrin repeat and SOCS box-containing 3, mRNA (cDNA clone MGC:996 IMAGE:3537359), complete cdsgi|34782772|gb|BC006488.2|Nucleotide
-
Chain 7, DNA replication licensing factor MCM7
Chain 7, DNA replication licensing factor MCM7gi|1870085602|pdb|6WGF|7Protein
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Last Updated: Sep 29, 2024