NM_000335.5(SCN5A):c.494C>T (p.Thr165Ile) AND Cardiac arrhythmia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004007962.2
Allele description [Variation Report for NM_000335.5(SCN5A):c.494C>T (p.Thr165Ile)]
NM_000335.5(SCN5A):c.494C>T (p.Thr165Ile)
Condition(s)
- Name:
- Cardiac arrhythmia
- Synonyms:
- Cardiac rhythm disease
- Identifiers:
- EFO: EFO_0004269; MONDO: MONDO:0007263; MedGen: C0003811; Human Phenotype Ontology: HP:0011675
-
acyl-CoA-binding domain-containing protein 5 isoform 1 [Homo sapiens]
acyl-CoA-binding domain-containing protein 5 isoform 1 [Homo sapiens]gi|203098629|ref|NP_663736.2|Protein
-
CR441437 XGC-tailbud Xenopus tropicalis cDNA clone TTbA023o24 3', mRNA sequence
CR441437 XGC-tailbud Xenopus tropicalis cDNA clone TTbA023o24 3', mRNA sequencegi|48967024|gnl|dbEST|23835652|emb| 437.1|Nucleotide
-
JGI_XZT57442.fwd NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7631940 5'...
JGI_XZT57442.fwd NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7631940 5', mRNA sequencegi|74296378|gnl|dbEST|31371904|gb|C 74.2|Nucleotide
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Last Updated: May 7, 2024