NM_000335.5(SCN5A):c.1152C>T (p.Ser384=) AND Sick sinus syndrome 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001148920.12
Allele description [Variation Report for NM_000335.5(SCN5A):c.1152C>T (p.Ser384=)]
NM_000335.5(SCN5A):c.1152C>T (p.Ser384=)
Condition(s)
- Name:
- Sick sinus syndrome 1
- Synonyms:
- SICK SINUS SYNDROME, CONGENITAL; SINUS BRADYCARDIA SYNDROME, FAMILIAL; SINUS NODE DISEASE, FAMILIAL, AUTOSOMAL RECESSIVE; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0024562; MedGen: C1837845; Orphanet: 166282; OMIM: 608567
Assertion and evidence details
Last Updated: Oct 13, 2024