NM_000530.8(MPZ):c.98A>T (p.Tyr33Phe) AND Charcot-Marie-Tooth disease, type I
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001856238.3
Allele description [Variation Report for NM_000530.8(MPZ):c.98A>T (p.Tyr33Phe)]
NM_000530.8(MPZ):c.98A>T (p.Tyr33Phe)
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
-
-Bilobalide (2)
Protein
-
PREDICTED: Bison bison bison solute carrier family 35, member D3 (SLC35D3), mRNA
PREDICTED: Bison bison bison solute carrier family 35, member D3 (SLC35D3), mRNAgi|742141043|ref|XM_010844231.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Mar 5, 2024