NM_000335.5(SCN5A):c.3724G>A (p.Asp1242Asn) AND Sick sinus syndrome 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001146729.12
Allele description [Variation Report for NM_000335.5(SCN5A):c.3724G>A (p.Asp1242Asn)]
NM_000335.5(SCN5A):c.3724G>A (p.Asp1242Asn)
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
-
delta(12)-acyl-lipid-desaturase-like [Carya illinoinensis]
delta(12)-acyl-lipid-desaturase-like [Carya illinoinensis]gi|2082484273|ref|XP_042956203.1|Protein
-
LOC119614528 [Lucilia sericata]
LOC119614528 [Lucilia sericata]Gene ID:119614528Gene
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Last Updated: Oct 13, 2024