NM_001166114.2(PNPLA6):c.3746G>A (p.Arg1249His) AND Laurence-Moon syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 9, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001331613.1
Allele description [Variation Report for NM_001166114.2(PNPLA6):c.3746G>A (p.Arg1249His)]
NM_001166114.2(PNPLA6):c.3746G>A (p.Arg1249His)
Condition(s)
-
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Last Updated: Sep 29, 2024