NM_000891.3(KCNJ2):c.51C>T (p.Asp17=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000557701.10
Allele description [Variation Report for NM_000891.3(KCNJ2):c.51C>T (p.Asp17=)]
NM_000891.3(KCNJ2):c.51C>T (p.Asp17=)
Condition(s)
- Name:
- Andersen Tawil syndrome (LQT7)
- Synonyms:
- Andersen Syndrome; Andersen cardiodysrhythmic periodic paralysis; Long QT syndrome 7; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008222; MedGen: C1563715; Orphanet: 37553; OMIM: 170390
-
substrate-binding domain-containing protein (plasmid) [Shinella oryzae]
substrate-binding domain-containing protein (plasmid) [Shinella oryzae]gi|2225498835|gnl|PRJNA756894|K6301 5|gb|UPA27840.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024