NM_000335.5(SCN5A):c.5287G>T (p.Val1763Phe) AND Brugada syndrome
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jan 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000058762.3
Allele description [Variation Report for NM_000335.5(SCN5A):c.5287G>T (p.Val1763Phe)]
NM_000335.5(SCN5A):c.5287G>T (p.Val1763Phe)
Condition(s)
- Name:
- Brugada syndrome
- Synonyms:
- Sudden unexpected nocturnal death syndrome; Sudden unexplained nocturnal death syndrome; Sudden Unexplained Death Syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015263; MedGen: C1142166; OMIM: PS601144
-
Mus musculus tigger transposable element derived 3, mRNA (cDNA clone MGC:60957 I...
Mus musculus tigger transposable element derived 3, mRNA (cDNA clone MGC:60957 IMAGE:30007514), complete cdsgi|32449769|gb|BC053500.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jul 22, 2023