NM_020631.6(PLEKHG5):c.2250-5C>T AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 11, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002085430.6
Allele description [Variation Report for NM_020631.6(PLEKHG5):c.2250-5C>T]
NM_020631.6(PLEKHG5):c.2250-5C>T
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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RecName: Full=Caprin-1; AltName: Full=Cytoplasmic activation- and proliferation-...
RecName: Full=Caprin-1; AltName: Full=Cytoplasmic activation- and proliferation-associated protein 1; AltName: Full=GPI-anchored membrane protein 1; AltName: Full=GPI-anchored protein p137; Short=GPI-p137; Short=p137GPI; AltName: Full=Membrane component chromosome 11 surface marker 1; AltName: Full=RNA granule protein 105gi|182676427|sp|Q60865.2|CAPR1_MOUSProtein
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CRLS1 [Ursus americanus]
CRLS1 [Ursus americanus]Gene ID:123799642Gene
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SLC7A8 solute carrier family 7 member 8 [Equus caballus]
SLC7A8 solute carrier family 7 member 8 [Equus caballus]Gene ID:100052453Gene
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100052453[uid] AND (alive[prop]) (1)
Gene
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Xanthomonas oryzae pv. oryzae strain PX061 scaffold133, whole genome shotgun seq...
Xanthomonas oryzae pv. oryzae strain PX061 scaffold133, whole genome shotgun sequencegi|1420625641|gb|QNOF01000134.1||gn :QNOF01|scaffold133Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024