NM_022089.4(ATP13A2):c.1767G>A (p.Pro589=) AND Kufor-Rakeb syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001101081.4
Allele description [Variation Report for NM_022089.4(ATP13A2):c.1767G>A (p.Pro589=)]
NM_022089.4(ATP13A2):c.1767G>A (p.Pro589=)
Condition(s)
-
曹元 (0)
PMC
-
Mus musculus 1 cell embryo 1 cell cDNA, RIKEN full-length enriched library, clon...
Mus musculus 1 cell embryo 1 cell cDNA, RIKEN full-length enriched library, clone:I0C0014L07 product:hypothetical Ovarian tumour, otubain/OTU domain profile/tRNA-binding arm containing protein, full insert sequencegi|74151464|dbj|AK166546.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 7, 2024