NM_182961.4(SYNE1):c.9604C>T (p.Arg3202Cys) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 11, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001199338.1
Allele description
NM_182961.4(SYNE1):c.9604C>T (p.Arg3202Cys)
Condition(s)
- Name:
- Upper limb muscle weakness
- Identifiers:
- MedGen: C1698196; Human Phenotype Ontology: HP:0003484
- Name:
- Motor polyneuropathy
- Synonyms:
- Peripheral motor neuropathy
- Identifiers:
- MONDO: MONDO:0002316; MedGen: C0271683; Human Phenotype Ontology: HP:0007178
- Name:
- Lower limb muscle weakness
- Synonyms:
- Lower extremity weakness; Lower limb weakness; Muscle weakness in lower limbs; See all synonyms [MedGen]
- Identifiers:
- MedGen: C1836296; Human Phenotype Ontology: HP:0007340
-
olfactory receptor family 10 subfamily AG member 58 [Mus musculus]
olfactory receptor family 10 subfamily AG member 58 [Mus musculus]gi|115529458|ref|NP_667239.2|Protein
-
4-aminobutyrate aminotransferase [Mycobacterium tuberculosis BT2]
4-aminobutyrate aminotransferase [Mycobacterium tuberculosis BT2]gi|585516791|gnl|CUHK|HKBT2_2734|gb 7531.1|Protein
-
Irs2 [Cricetulus griseus]
Irs2 [Cricetulus griseus]Gene ID:100771848Gene
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Last Updated: Oct 30, 2020