NM_000218.3(KCNQ1):c.749T>A (p.Leu250His) AND Congenital long QT syndrome
- Germline classification:
- not provided (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000057746.5
Allele description [Variation Report for NM_000218.3(KCNQ1):c.749T>A (p.Leu250His)]
NM_000218.3(KCNQ1):c.749T>A (p.Leu250His)
Condition(s)
-
carboxy terminal-processing peptidase [Agarivorans sp. B2Z047]
carboxy terminal-processing peptidase [Agarivorans sp. B2Z047]gi|2239122271|gnl|PRJNA783415|LQZ07 0|gb|UQN40865.1|Protein
-
LOC113095915 [Carassius auratus]
LOC113095915 [Carassius auratus]Gene ID:113095915Gene
-
PpBr36_00104 [Pyricularia pennisetigena]
PpBr36_00104 [Pyricularia pennisetigena]Gene ID:40729602Gene
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See more...Assertion and evidence details
Last Updated: Mar 26, 2023