NM_014317.5(PDSS1):c.83G>T (p.Arg28Leu) AND Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jan 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000391871.6
Allele description [Variation Report for NM_014317.5(PDSS1):c.83G>T (p.Arg28Leu)]
NM_014317.5(PDSS1):c.83G>T (p.Arg28Leu)
Condition(s)
-
ctbp1 [Xiphophorus maculatus]
ctbp1 [Xiphophorus maculatus]Gene ID:102217139Gene
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Last Updated: Sep 29, 2024