NM_000335.5(SCN5A):c.1613del (p.Gly538fs) AND Sick sinus syndrome 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001195957.10
Allele description [Variation Report for NM_000335.5(SCN5A):c.1613del (p.Gly538fs)]
NM_000335.5(SCN5A):c.1613del (p.Gly538fs)
Condition(s)
- Name:
- Sick sinus syndrome 1
- Synonyms:
- SICK SINUS SYNDROME, CONGENITAL; SINUS BRADYCARDIA SYNDROME, FAMILIAL; SINUS NODE DISEASE, FAMILIAL, AUTOSOMAL RECESSIVE; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0024562; MedGen: C1837845; Orphanet: 166282; OMIM: 608567
-
LOC107755161 [Sinocyclocheilus rhinocerous]
LOC107755161 [Sinocyclocheilus rhinocerous]Gene ID:107755161Gene
-
cytochrome oxidase subunit 1, partial (mitochondrion) [Tryphoninae sp. BBHEC709-...
cytochrome oxidase subunit 1, partial (mitochondrion) [Tryphoninae sp. BBHEC709-10]gi|300235944|gb|ADJ89587.1|Protein
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txid7955[organism] AND ((AI396569 OR AI396569.* OR AI384209 OR AI... (18)
txid7955[organism] AND ((AI396569 OR AI396569.* OR AI384209 OR AI384209.*))SearchGEO Profiles
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024