NM_020631.6(PLEKHG5):c.882C>T (p.Phe294=) AND Neuronopathy, distal hereditary motor, autosomal recessive 4
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000386812.5
Allele description [Variation Report for NM_020631.6(PLEKHG5):c.882C>T (p.Phe294=)]
NM_020631.6(PLEKHG5):c.882C>T (p.Phe294=)
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
-
mail baseplate wedge protein [Pectobacterium phage PP101]
mail baseplate wedge protein [Pectobacterium phage PP101]gi|1103735056|gb|APD19728.1|Protein
-
TRIADDRAFT_54543 [Trichoplax adhaerens]
TRIADDRAFT_54543 [Trichoplax adhaerens]Gene ID:6751699Gene
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ARPC3P3 actin related protein 2/3 complex subunit 3 pseudogene 3 [Homo sapiens]
ARPC3P3 actin related protein 2/3 complex subunit 3 pseudogene 3 [Homo sapiens]Gene ID:729494Gene
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See more...Assertion and evidence details
Last Updated: May 1, 2024