NM_001172509.2(SATB2):c.927A>C (p.Gln309His) AND Chromosome 2q32-q33 deletion syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003741927.1
Allele description [Variation Report for NM_001172509.2(SATB2):c.927A>C (p.Gln309His)]
NM_001172509.2(SATB2):c.927A>C (p.Gln309His)
Condition(s)
-
chloride intracellular channel protein 1 [Homo sapiens]
chloride intracellular channel protein 1 [Homo sapiens]gi|567757609|ref|NP_001274523.1|Protein
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Last Updated: Feb 28, 2024