NM_000238.4(KCNH2):c.2360T>A (p.Ile787Asn) AND Long QT syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 31, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000694640.7
Allele description [Variation Report for NM_000238.4(KCNH2):c.2360T>A (p.Ile787Asn)]
NM_000238.4(KCNH2):c.2360T>A (p.Ile787Asn)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
-
Refractory anemia
Refractory anemiaMedGen
-
C0002893[conceptid] (1)
MedGen
-
JGI_CAAP7486.fwd NIH_XGC_tropInt1 Xenopus tropicalis cDNA clone IMAGE:7713961 5'...
JGI_CAAP7486.fwd NIH_XGC_tropInt1 Xenopus tropicalis cDNA clone IMAGE:7713961 5', mRNA sequencegi|58785997|gnl|dbEST|27679389|gb|C 75.1|Nucleotide
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AGENCOURT_11283429 Wellcome CRC pSK egg Xenopus laevis cDNA clone IMAGE:6869708 ...
AGENCOURT_11283429 Wellcome CRC pSK egg Xenopus laevis cDNA clone IMAGE:6869708 5', mRNA sequencegi|27513640|gnl|dbEST|16567049|gb|C 86.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 14, 2024