NM_005477.3(HCN4):c.1090G>A (p.Asp364Asn) AND Sick sinus syndrome 2, autosomal dominant
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001117429.4
Allele description [Variation Report for NM_005477.3(HCN4):c.1090G>A (p.Asp364Asn)]
NM_005477.3(HCN4):c.1090G>A (p.Asp364Asn)
Condition(s)
- Name:
- Sick sinus syndrome 2, autosomal dominant (SSS2)
- Synonyms:
- ATRIAL FIBRILLATION WITH BRADYARRHYTHMIA; SINUS BRADYCARDIA SYNDROME, FAMILIAL, AUTOSOMAL DOMINANT; SINUS NODE DISEASE, FAMILIAL, AUTOSOMAL DOMINANT; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008102; MedGen: C1834144; Orphanet: 166282; OMIM: 163800
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cytochrome oxidase subunit I, partial (mitochondrion) [Zeugodacus cucurbitae]
cytochrome oxidase subunit I, partial (mitochondrion) [Zeugodacus cucurbitae]gi|564295491|gb|AHB85421.1|Protein
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TRBV11-3[gene] (27)
ClinVar
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Profile neighbors for GEO Profiles (Select 38078753) (82)
GEO Profiles
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Structure for Protein (Select 532164699) (3)
Structure
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Drosophila kikkawai gene for phosphoglucose isomerase, partial cds, isolate:Dkik...
Drosophila kikkawai gene for phosphoglucose isomerase, partial cds, isolate:DkikPgi13gi|46092242|dbj|AB154642.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 1, 2024