NM_004260.4(RECQL4):c.1193C>A (p.Thr398Lys) AND Baller-Gerold syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001318404.4
Allele description [Variation Report for NM_004260.4(RECQL4):c.1193C>A (p.Thr398Lys)]
NM_004260.4(RECQL4):c.1193C>A (p.Thr398Lys)
Condition(s)
-
PREDICTED: Mus musculus Rap1 GTPase-activating protein (Rap1gap), transcript var...
PREDICTED: Mus musculus Rap1 GTPase-activating protein (Rap1gap), transcript variant X15, mRNAgi|1907153843|ref|XM_006538482.5|Nucleotide
-
peptidase 1 [Dermatophagoides farinae]
peptidase 1 [Dermatophagoides farinae]gi|2205477332|ref|XP_046919163.1|Protein
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Last Updated: Sep 29, 2024