NM_001267550.2(TTN):c.12845T>A (p.Ile4282Asn) AND Long QT syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 15, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000852531.1
Allele description [Variation Report for NM_001267550.2(TTN):c.12845T>A (p.Ile4282Asn)]
NM_001267550.2(TTN):c.12845T>A (p.Ile4282Asn)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
-
Perinatal-Stress Induced Hyperinsulinism
Perinatal-Stress Induced HyperinsulinismMedGen
-
Neuroendocrine pancreatic tumor
Neuroendocrine pancreatic tumorMedGen
-
Profile neighbors for GEO Profiles (Select 126245339) (20)
GEO Profiles
-
Clec4a3 C-type lectin domain family 4, member a3 [Mus musculus]
Clec4a3 C-type lectin domain family 4, member a3 [Mus musculus]Gene ID:73149Gene
-
Gene Links for GEO Profiles (Select 126248841) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Aug 5, 2023