NM_172107.4(KCNQ2):c.185C>T (p.Ala62Val) AND Inborn genetic diseases
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 16, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002408838.2
Allele description [Variation Report for NM_172107.4(KCNQ2):c.185C>T (p.Ala62Val)]
NM_172107.4(KCNQ2):c.185C>T (p.Ala62Val)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
cAMP-dependent protein kinase catalytic subunit beta isoform 14 [Homo sapiens]
cAMP-dependent protein kinase catalytic subunit beta isoform 14 [Homo sapiens]gi|1770726489|ref|NP_001362490.1|Protein
-
prostaglandin G/H synthase 1 isoform 5 [Homo sapiens]
prostaglandin G/H synthase 1 isoform 5 [Homo sapiens]gi|403310643|ref|NP_001258095.1|Protein
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Last Updated: May 1, 2024