NM_005477.3(HCN4):c.3209G>A (p.Gly1070Asp) AND Sick sinus syndrome 2, autosomal dominant
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002289585.2
Allele description [Variation Report for NM_005477.3(HCN4):c.3209G>A (p.Gly1070Asp)]
NM_005477.3(HCN4):c.3209G>A (p.Gly1070Asp)
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
-
2-isopropylmalate synthase [Metabacillus litoralis]
2-isopropylmalate synthase [Metabacillus litoralis]gi|2166723730|gnl|PRJNA723220|KDJ21 60|gb|UHA62300.1|Protein
-
LOC115147443 [Salmo trutta]
LOC115147443 [Salmo trutta]Gene ID:115147443Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Aug 4, 2024