NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr) AND not provided
- Germline classification:
- Benign (5 submissions)
- Last evaluated:
- Jan 30, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000946559.24
Allele description [Variation Report for NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr)]
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
RecName: Full=Serine/threonine-protein kinase Chk2; AltName: Full=CHK2 checkpoin...
RecName: Full=Serine/threonine-protein kinase Chk2; AltName: Full=CHK2 checkpoint homolog; AltName: Full=Cds1 homolog; Short=Hucds1; Short=hCds1; AltName: Full=Checkpoint kinase 2gi|6685284|sp|O96017.1|CHK2_HUMANProtein
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Last Updated: Oct 20, 2024