NM_020631.6(PLEKHG5):c.2746A>C (p.Thr916Pro) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000645440.8
Allele description [Variation Report for NM_020631.6(PLEKHG5):c.2746A>C (p.Thr916Pro)]
NM_020631.6(PLEKHG5):c.2746A>C (p.Thr916Pro)
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
-
Listeria monocytogenes strain CFSAN035184, whole genome shotgun sequencing proje...
Listeria monocytogenes strain CFSAN035184, whole genome shotgun sequencing projectgi|1360235831|gb|PVVJ00000000.1|PVV 0000Nucleotide
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FBXL2[gene] (41)
ClinVar
-
alcohol dehydrogenase class III [Bradyrhizobium japonicum USDA 6]
alcohol dehydrogenase class III [Bradyrhizobium japonicum USDA 6]gi|354956081|dbj|BAL08760.1|Protein
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Last Updated: Aug 4, 2024