NM_000335.5(SCN5A):c.5521A>T (p.Met1841Leu) AND Progressive familial heart block, type 1A
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001144105.5
Allele description [Variation Report for NM_000335.5(SCN5A):c.5521A>T (p.Met1841Leu)]
NM_000335.5(SCN5A):c.5521A>T (p.Met1841Leu)
Condition(s)
- Name:
- Progressive familial heart block, type 1A (PFHB1A)
- Synonyms:
- HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I; Heart block progressive familial type 1; Cardiac conduction defect progressive; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007240; MedGen: C1879286; Orphanet: 871; OMIM: 113900
Assertion and evidence details
Last Updated: Aug 25, 2024