NM_000335.5(SCN5A):c.1597C>A (p.Arg533Ser) AND Cardiac arrhythmia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001842653.11
Allele description [Variation Report for NM_000335.5(SCN5A):c.1597C>A (p.Arg533Ser)]
NM_000335.5(SCN5A):c.1597C>A (p.Arg533Ser)
Condition(s)
- Name:
- Cardiac arrhythmia
- Synonyms:
- Cardiac rhythm disease
- Identifiers:
- EFO: EFO_0004269; MONDO: MONDO:0007263; MedGen: C0003811; Human Phenotype Ontology: HP:0011675
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Homo sapiens forkhead-associated (FHA) phosphopeptide binding domain 1, mRNA (cD...
Homo sapiens forkhead-associated (FHA) phosphopeptide binding domain 1, mRNA (cDNA clone IMAGE:3913195), with apparent retained introngi|21955369|gb|BC015238.1|Nucleotide
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Staphylococcus sp. HMSC14D10 genomic scaffold Scaffold11, whole genome shotgun s...
Staphylococcus sp. HMSC14D10 genomic scaffold Scaffold11, whole genome shotgun sequencegi|1087833824|gnl|WGS:LUAM01|Scaffo gb|KV792226.1|Nucleotide
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PRPF3 pre-mRNA processing factor 3 [Homo sapiens]
PRPF3 pre-mRNA processing factor 3 [Homo sapiens]Gene ID:9129Gene
-
Gene Links for GEO Profiles (Select 44332839) (1)
Gene
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Last Updated: Oct 8, 2024