NM_020631.6(PLEKHG5):c.1385A>G (p.Tyr462Cys) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 12, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001363609.7
Allele description [Variation Report for NM_020631.6(PLEKHG5):c.1385A>G (p.Tyr462Cys)]
NM_020631.6(PLEKHG5):c.1385A>G (p.Tyr462Cys)
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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Rattus norvegicus guanine nucleotide binding protein-like 2 (nucleolar), mRNA (c...
Rattus norvegicus guanine nucleotide binding protein-like 2 (nucleolar), mRNA (cDNA clone MGC:116342 IMAGE:7382617), complete cdsgi|68534383|gb|BC099173.1|Nucleotide
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Last Updated: Sep 29, 2024