NM_005097.4(LGI1):c.931C>T (p.Arg311Ter) AND not provided
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Sep 7, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000254786.6
Allele description [Variation Report for NM_005097.4(LGI1):c.931C>T (p.Arg311Ter)]
NM_005097.4(LGI1):c.931C>T (p.Arg311Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
acetyl-coenzyme A synthetase, cytoplasmic isoform X6 [Homo sapiens]
acetyl-coenzyme A synthetase, cytoplasmic isoform X6 [Homo sapiens]gi|530418198|ref|XP_005260513.1|Protein
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Acute Myeloid Leukemia with Germline CEBPA Mutation
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Patchy variation in bone mineral density
Patchy variation in bone mineral densityMedGen
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024