NM_000346.4(SOX9):c.868G>C (p.Asp290His) AND Camptomelic dysplasia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003016020.3
Allele description [Variation Report for NM_000346.4(SOX9):c.868G>C (p.Asp290His)]
NM_000346.4(SOX9):c.868G>C (p.Asp290His)
Condition(s)
-
Homo sapiens chromosome 4 open reading frame 46, mRNA (cDNA clone MGC:104679 IMA...
Homo sapiens chromosome 4 open reading frame 46, mRNA (cDNA clone MGC:104679 IMAGE:30345779), complete cdsgi|63101673|gb|BC094775.1|Nucleotide
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Last Updated: Sep 29, 2024