NM_020631.6(PLEKHG5):c.1428G>C (p.Lys476Asn) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 8, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001920972.4
Allele description [Variation Report for NM_020631.6(PLEKHG5):c.1428G>C (p.Lys476Asn)]
NM_020631.6(PLEKHG5):c.1428G>C (p.Lys476Asn)
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
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Last Updated: Sep 29, 2024