NM_000335.5(SCN5A):c.4168G>A (p.Gly1390Arg) AND Brugada syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 14, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000471648.14
Allele description [Variation Report for NM_000335.5(SCN5A):c.4168G>A (p.Gly1390Arg)]
NM_000335.5(SCN5A):c.4168G>A (p.Gly1390Arg)
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
-
DA304849 BRHIP2 Homo sapiens cDNA clone BRHIP2020909 5', mRNA sequence
DA304849 BRHIP2 Homo sapiens cDNA clone BRHIP2020909 5', mRNA sequencegi|79822329|gnl|dbEST|33123037|dbj| 849.1|Nucleotide
-
serine/threonine-protein kinase PAK 3 isoform X1 [Homo sapiens]
serine/threonine-protein kinase PAK 3 isoform X1 [Homo sapiens]gi|2462629634|ref|XP_054183123.1|Protein
-
LOC127829947 [Homo sapiens]
LOC127829947 [Homo sapiens]Gene ID:127829947Gene
-
LOC127829950 [Homo sapiens]
LOC127829950 [Homo sapiens]Gene ID:127829950Gene
-
LOC127829958 [Homo sapiens]
LOC127829958 [Homo sapiens]Gene ID:127829958Gene
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Last Updated: Oct 13, 2024