NM_000530.8(MPZ):c.257A>C (p.Gln86Pro) AND Charcot-Marie-Tooth disease, type I
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 16, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001214802.7
Allele description [Variation Report for NM_000530.8(MPZ):c.257A>C (p.Gln86Pro)]
NM_000530.8(MPZ):c.257A>C (p.Gln86Pro)
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 cargo selection protein (mannose 6 phosphate receptor binding prote...
Homo sapiens cargo selection protein (mannose 6 phosphate receptor binding protein) (TIP47), mRNAgi|5032182|ref|NM_005817.1|Nucleotide
-
Homo sapiens synaptotagmin binding, cytoplasmic RNA interacting protein, mRNA (c...
Homo sapiens synaptotagmin binding, cytoplasmic RNA interacting protein, mRNA (cDNA clone MGC:49819 IMAGE:4513184), complete cdsgi|26454827|gb|BC040844.1|Nucleotide
-
olfactory receptor family 8 subfamily S member 8 [Mus musculus]
olfactory receptor family 8 subfamily S member 8 [Mus musculus]gi|22129727|ref|NP_666392.1|Protein
-
AGENCOURT_7047061 NIH_MGC_99 Homo sapiens cDNA clone IMAGE:5813592 5', mRNA sequ...
AGENCOURT_7047061 NIH_MGC_99 Homo sapiens cDNA clone IMAGE:5813592 5', mRNA sequencegi|19817189|gnl|dbEST|11908137|gb|B 49.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024