NM_015865.7(SLC14A1):c.350T>C (p.Ile117Thr) AND not specified
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004305600.1
Allele description [Variation Report for NM_015865.7(SLC14A1):c.350T>C (p.Ile117Thr)]
NM_015865.7(SLC14A1):c.350T>C (p.Ile117Thr)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Bacillus pumilus strain BMc1 16S ribosomal RNA gene, partial sequence
Bacillus pumilus strain BMc1 16S ribosomal RNA gene, partial sequencegi|532644166|gb|KF387715.1|Nucleotide
-
RecName: Full=Potassium voltage-gated channel subfamily KQT member 1; AltName: F...
RecName: Full=Potassium voltage-gated channel subfamily KQT member 1; AltName: Full=IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1; AltName: Full=KQT-like 1; AltName: Full=Voltage-gated potassium channel subunit Kv7.1gi|14285388|sp|Q9Z0N7.1|KCNQ1_RATProtein
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024