NM_000218.3(KCNQ1):c.972C>T (p.Val324=) AND Jervell and Lange-Nielsen syndrome 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000322164.13
Allele description [Variation Report for NM_000218.3(KCNQ1):c.972C>T (p.Val324=)]
NM_000218.3(KCNQ1):c.972C>T (p.Val324=)
Condition(s)
- Name:
- Jervell and Lange-Nielsen syndrome 1 (JLNS1)
- Synonyms:
- Deafness, congenital, and functional heart disease; Prolonged QT interval in EKG and sudden death; Cardioauditory syndrome of Jervell and Lange-Nielsen; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0024540; MedGen: C4551509; Orphanet: 768; Orphanet: 90647; OMIM: 220400
-
MCE family protein [Paracoccus liaowanqingii]
MCE family protein [Paracoccus liaowanqingii]gi|1608348849|gb|QBX34927.1||gnl|PR 9051|E4191_09535Protein
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024