NM_000530.8(MPZ):c.130_137del (p.Ser44fs) AND Charcot-Marie-Tooth disease, type I
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001044115.8
Allele description [Variation Report for NM_000530.8(MPZ):c.130_137del (p.Ser44fs)]
NM_000530.8(MPZ):c.130_137del (p.Ser44fs)
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
-
ribulose-1,5-bisphosphate carboxylase/oxygenase form II, partial [gamma proteoba...
ribulose-1,5-bisphosphate carboxylase/oxygenase form II, partial [gamma proteobacterium SCGC AAA240-K14]gi|322511712|gb|ADX05625.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024