NM_001015880.2(PAPSS2):c.1007C>T (p.Ala336Val) AND Spondyloepimetaphyseal dysplasia, PAPSS2 type
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 31, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001348833.5
Allele description [Variation Report for NM_001015880.2(PAPSS2):c.1007C>T (p.Ala336Val)]
NM_001015880.2(PAPSS2):c.1007C>T (p.Ala336Val)
Condition(s)
-
NADH dehydrogenase subunit 1 (mitochondrion) [Anilius scytale]
NADH dehydrogenase subunit 1 (mitochondrion) [Anilius scytale]gi|301353288|ref|YP_003795361.1|Protein
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Last Updated: Sep 29, 2024