NM_020631.6(PLEKHG5):c.540C>T (p.Pro180=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002113501.6
Allele description
NM_020631.6(PLEKHG5):c.540C>T (p.Pro180=)
Condition(s)
- Name:
- Neuronopathy, distal hereditary motor, autosomal recessive 4
- Synonyms:
- Distal spinal muscular atrophy, autosomal recessive 4; Autosomal recessive lower motor neuron disease with childhood onset; NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 4
- Identifiers:
- MONDO: MONDO:0012608; MedGen: C1970211; Orphanet: 206580; OMIM: 611067
-
Homo sapiens phosphorylase kinase regulatory subunit alpha 1 (PHKA1), RefSeqGene...
Homo sapiens phosphorylase kinase regulatory subunit alpha 1 (PHKA1), RefSeqGene on chromosome Xgi|1152003149|ref|NG_016599.2|Nucleotide
-
Homo sapiens coiled-coil domain containing 34 (CCDC34), transcript variant 2, mR...
Homo sapiens coiled-coil domain containing 34 (CCDC34), transcript variant 2, mRNAgi|1890265826|ref|NM_080654.3|Nucleotide
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Last Updated: Aug 4, 2024