NM_000335.5(SCN5A):c.19C>T (p.Pro7Ser) AND Brugada syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001245113.12
Allele description [Variation Report for NM_000335.5(SCN5A):c.19C>T (p.Pro7Ser)]
NM_000335.5(SCN5A):c.19C>T (p.Pro7Ser)
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
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Homo sapiens chromosome 16 open reading frame 74 (C16orf74), transcript variant ...
Homo sapiens chromosome 16 open reading frame 74 (C16orf74), transcript variant 2, non-coding RNAgi|1614232066|ref|NR_161452.1|Nucleotide
-
Homo sapiens chromosome 16 open reading frame 74 (C16orf74), transcript variant ...
Homo sapiens chromosome 16 open reading frame 74 (C16orf74), transcript variant 3, non-coding RNAgi|1614232109|ref|NR_161453.1|Nucleotide
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RecName: Full=Actin-11; Flags: Precursor
RecName: Full=Actin-11; Flags: Precursorgi|728798|sp|P41341.1|ACTY_LIMPOProtein
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024