NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu) AND Long QT syndrome 1
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Jan 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000678950.5
Allele description [Variation Report for NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu)]
NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu)
Condition(s)
-
Microbe sample from Klebsiella pneumoniae
Microbe sample from Klebsiella pneumoniaebiosample
-
Microbe sample from Escherichia coli
Microbe sample from Escherichia colibiosample
-
Gm35314 predicted gene, 35314 [Mus musculus]
Gm35314 predicted gene, 35314 [Mus musculus]Gene ID:102638846Gene
-
102638846[uid] AND (alive[prop]) (1)
Gene
-
CBXT11860.b1 NICHD_XGC_trop_25 Xenopus tropicalis cDNA clone IMAGE:9010432 5', m...
CBXT11860.b1 NICHD_XGC_trop_25 Xenopus tropicalis cDNA clone IMAGE:9010432 5', mRNA sequencegi|133820464|gnl|dbEST|45249985|gb| 025.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024