NM_004260.4(RECQL4):c.1478T>C (p.Leu493Pro) AND Baller-Gerold syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000700431.4
Allele description [Variation Report for NM_004260.4(RECQL4):c.1478T>C (p.Leu493Pro)]
NM_004260.4(RECQL4):c.1478T>C (p.Leu493Pro)
Condition(s)
-
Mus musculus Fas (TNFRSF6)-associated via death domain, mRNA (cDNA clone MGC:291...
Mus musculus Fas (TNFRSF6)-associated via death domain, mRNA (cDNA clone MGC:29107 IMAGE:4190229), complete cdsgi|18204734|gb|BC021400.1|Nucleotide
-
Mus musculus Fas (TNFRSF6)-associated via death domain, mRNA (cDNA clone MGC:597...
Mus musculus Fas (TNFRSF6)-associated via death domain, mRNA (cDNA clone MGC:5978 IMAGE:3587331), complete cdsgi|13435433|gb|BC004584.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024