NM_004260.4(RECQL4):c.1556A>G (p.Tyr519Cys) AND Baller-Gerold syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001923159.4
Allele description [Variation Report for NM_004260.4(RECQL4):c.1556A>G (p.Tyr519Cys)]
NM_004260.4(RECQL4):c.1556A>G (p.Tyr519Cys)
Condition(s)
-
PREDICTED: Ictalurus punctatus holocarboxylase synthetase (biotin-(proprionyl-Co...
PREDICTED: Ictalurus punctatus holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (hlcs), transcript variant X3, mRNAgi|2443711733|ref|XM_017489728.3|Nucleotide
-
Gm28841 AND (alive[prop]) (0)
Gene
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Last Updated: Sep 29, 2024