NM_004260.4(RECQL4):c.1411del (p.Gln471fs) AND Baller-Gerold syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002570744.3
Allele description [Variation Report for NM_004260.4(RECQL4):c.1411del (p.Gln471fs)]
NM_004260.4(RECQL4):c.1411del (p.Gln471fs)
Condition(s)
-
carboxyl- protease [Coprothermobacter proteolyticus DSM 5265]
carboxyl- protease [Coprothermobacter proteolyticus DSM 5265]gi|206738279|gb|ACI17357.1||gnl|PRJ 29|COPRO5265_0551Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024