NM_020631.6(PLEKHG5):c.450G>A (p.Lys150=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003796496.2
Allele description [Variation Report for NM_020631.6(PLEKHG5):c.450G>A (p.Lys150=)]
NM_020631.6(PLEKHG5):c.450G>A (p.Lys150=)
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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cytochrome c oxidase subunit I, partial (mitochondrion) [Plusioglyphiulus steine...
cytochrome c oxidase subunit I, partial (mitochondrion) [Plusioglyphiulus steineri]gi|2554111701|gb|WKW89163.1|Protein
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ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloropl...
ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloroplast) [Wittsteinia balansae]gi|2314332341|gb|UXX19637.1|Protein
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MHC class II antigen, partial [Ursus thibetanus mupinensis]
MHC class II antigen, partial [Ursus thibetanus mupinensis]gi|2252558215|gb|USC27792.1|Protein
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Rupicapra GAD2 gene, intron.
Rupicapra GAD2 gene, intron.PopSet: 1133373285PopSet
-
F700_mgr01 [Orcaella heinsohni]
F700_mgr01 [Orcaella heinsohni]Gene ID:79571891Gene
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Last Updated: Sep 29, 2024