NM_000218.3(KCNQ1):c.1830C>T (p.Thr610=) AND Short QT syndrome type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001105016.12
Allele description [Variation Report for NM_000218.3(KCNQ1):c.1830C>T (p.Thr610=)]
NM_000218.3(KCNQ1):c.1830C>T (p.Thr610=)
Condition(s)
-
LOC119407402[gene] (79)
ClinVar
-
Homo sapiens isolate CHM13 chromosome 10, alternate assembly T2T-CHM13v2.0
Homo sapiens isolate CHM13 chromosome 10, alternate assembly T2T-CHM13v2.0gi|2194973501|gnl|ASM:GCF_009914825 ef|NC_060934.1||gpp|GPC_000012749.1||gnl|NCBI_GENOMES|119570Nucleotide
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See more...Assertion and evidence details
Last Updated: May 12, 2024