NM_000219.6(KCNE1):c.54G>A (p.Gln18=) AND Cardiovascular phenotype
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 26, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000620907.2
Allele description
NM_000219.6(KCNE1):c.54G>A (p.Gln18=)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
11p partial monosomy syndrome
11p partial monosomy syndromeMedGen
-
C0206115[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024