NM_152296.5(ATP1A3):c.1710G>A (p.Thr570=) AND Dystonia 12
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 27, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000692129.7
Allele description [Variation Report for NM_152296.5(ATP1A3):c.1710G>A (p.Thr570=)]
NM_152296.5(ATP1A3):c.1710G>A (p.Thr570=)
Condition(s)
-
voltage-gated potassium channel KCNC4 isoform 2 [Mus musculus]
voltage-gated potassium channel KCNC4 isoform 2 [Mus musculus]gi|22122333|ref|NP_666034.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024