NM_003098.3(SNTA1):c.1245G>A (p.Thr415=) AND Long QT syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 6, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001447852.12
Allele description [Variation Report for NM_003098.3(SNTA1):c.1245G>A (p.Thr415=)]
NM_003098.3(SNTA1):c.1245G>A (p.Thr415=)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
-
Taxonomy Links for Protein (Select 2217356602) (1)
Taxonomy
-
(("clinical guidelines"[Resource Type]) OR "practice guideline"[P... (3)
(("clinical guidelines"[Resource Type]) OR "practice guideline"[Publication Type]) AND ("Myopathy, congenital, progressive, with scoliosis")SearchBooks
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otoferlin isoform X9 [Canis lupus familiaris]
otoferlin isoform X9 [Canis lupus familiaris]gi|1952694959|ref|XP_038309549.1|Protein
-
PopSet Links for Nucleotide (Select 284798833) (1)
PopSet
-
unclassified Gammaproteobacteria 16S ribosomal RNA gene, partial sequence.
unclassified Gammaproteobacteria 16S ribosomal RNA gene, partial sequence.PopSet: 284798771PopSet
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Last Updated: May 12, 2024