NM_004260.4(RECQL4):c.1005C>T (p.Gly335=) AND Baller-Gerold syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001479157.5
Allele description [Variation Report for NM_004260.4(RECQL4):c.1005C>T (p.Gly335=)]
NM_004260.4(RECQL4):c.1005C>T (p.Gly335=)
Condition(s)
-
RecName: Full=Protein phosphatase 1A; AltName: Full=Protein phosphatase 2C isofo...
RecName: Full=Protein phosphatase 1A; AltName: Full=Protein phosphatase 2C isoform alpha; Short=PP2C-alpha; AltName: Full=Protein phosphatase IAgi|548442|sp|P35813.1|PPM1A_HUMANProtein
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See more...Assertion and evidence details
Last Updated: Feb 14, 2024