NM_004260.4(RECQL4):c.1154A>G (p.Lys385Arg) AND Baller-Gerold syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001993419.3
Allele description [Variation Report for NM_004260.4(RECQL4):c.1154A>G (p.Lys385Arg)]
NM_004260.4(RECQL4):c.1154A>G (p.Lys385Arg)
Condition(s)
-
RecName: Full=DNA polymerase epsilon catalytic subunit A; AltName: Full=3'-5' ex...
RecName: Full=DNA polymerase epsilon catalytic subunit A; AltName: Full=3'-5' exodeoxyribonuclease; AltName: Full=DNA polymerase II subunit Agi|116241339|sp|Q07864.5|DPOE1_HUMAProtein
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Last Updated: Feb 28, 2024