NM_000238.4(KCNH2):c.550G>A (p.Gly184Ser) AND Long QT syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003836645.1
Allele description [Variation Report for NM_000238.4(KCNH2):c.550G>A (p.Gly184Ser)]
NM_000238.4(KCNH2):c.550G>A (p.Gly184Ser)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
-
RANBP1 RAN binding protein 1 [Homo sapiens]
RANBP1 RAN binding protein 1 [Homo sapiens]Gene ID:5902Gene
-
txid411798[orgn] AND "specimen-voucher YW1"[All Fields] (2)
Protein
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024