NM_033056.4(PCDH15):c.5707A>G (p.Ile1903Val) AND Usher syndrome type 1F
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Sep 16, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001274778.9
Allele description [Variation Report for NM_033056.4(PCDH15):c.5707A>G (p.Ile1903Val)]
NM_033056.4(PCDH15):c.5707A>G (p.Ile1903Val)
Condition(s)
-
RecName: Full=Receptor-interacting serine/threonine-protein kinase 3; AltName: F...
RecName: Full=Receptor-interacting serine/threonine-protein kinase 3; AltName: Full=RIP-like protein kinase 3; AltName: Full=Receptor-interacting protein 3; Short=RIP-3gi|205371831|sp|Q9Y572.2|RIPK3_HUMAProtein
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024