NM_000335.5(SCN5A):c.1822G>A (p.Asp608Asn) AND Cardiac arrhythmia
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Oct 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001841860.13
Allele description [Variation Report for NM_000335.5(SCN5A):c.1822G>A (p.Asp608Asn)]
NM_000335.5(SCN5A):c.1822G>A (p.Asp608Asn)
Condition(s)
- Name:
- Cardiac arrhythmia
- Synonyms:
- Cardiac rhythm disease
- Identifiers:
- EFO: EFO_0004269; MONDO: MONDO:0007263; MedGen: C0003811; Human Phenotype Ontology: HP:0011675
-
Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA
Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNAgi|1653960608|ref|NM_032600.3|Nucleotide
-
CCDC54 [Bos mutus]
CCDC54 [Bos mutus]Gene ID:102266717Gene
-
CCDC54 [Saccopteryx leptura]
CCDC54 [Saccopteryx leptura]Gene ID:136379500Gene
-
CCDC54 [Saccopteryx bilineata]
CCDC54 [Saccopteryx bilineata]Gene ID:136311665Gene
-
LOC107948117 [Gossypium hirsutum]
LOC107948117 [Gossypium hirsutum]Gene ID:107948117Gene
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024