NM_015047.3(EMC1):c.2087G>A (p.Trp696Ter) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 4, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000760574.1
Allele description [Variation Report for NM_015047.3(EMC1):c.2087G>A (p.Trp696Ter)]
NM_015047.3(EMC1):c.2087G>A (p.Trp696Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
"Centre for Mendelian Genomics, University Medical Centre Ljublja... (3)
"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[submitter] AND "CPT1A"[gene]SearchClinVar
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See more...Assertion and evidence details
Last Updated: May 19, 2024