NM_000238.4(KCNH2):c.3040C>T (p.Arg1014Ter) AND Long QT syndrome
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Oct 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000204945.10
Allele description [Variation Report for NM_000238.4(KCNH2):c.3040C>T (p.Arg1014Ter)]
NM_000238.4(KCNH2):c.3040C>T (p.Arg1014Ter)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
-
Chromosome neighbors for GEO Profiles (Select 131028253) (20)
GEO Profiles
-
Cholera, Vibrio cholerae O1 and O139, and Other Pathogenic Vibrios - Medical Mic...
Cholera, Vibrio cholerae O1 and O139, and Other Pathogenic Vibrios - Medical Microbiology
-
"Ambry Genetics"[submitter] AND "NMBR"[gene] (30)
ClinVar
-
PubChem Substance Links for Gene (Select 5858) (72)
PubChem Substance
-
"Ambry Genetics"[submitter] AND "RECK"[gene] (56)
ClinVar
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 7, 2024