NM_005472.5(KCNE3):c.248G>A (p.Arg83His) AND Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- May 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000988595.2
Allele description [Variation Report for NM_005472.5(KCNE3):c.248G>A (p.Arg83His)]
NM_005472.5(KCNE3):c.248G>A (p.Arg83His)
Condition(s)
-
MAG TPA_asm: Pseudolabrys sp. isolate CTOTU25442, whole genome shotgun sequencin...
MAG TPA_asm: Pseudolabrys sp. isolate CTOTU25442, whole genome shotgun sequencing projectgi|2679365670|tpg|DAISKM000000000.1 KM010000000Nucleotide
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See more...Assertion and evidence details
Last Updated: May 12, 2024