NM_002578.5(PAK3):c.25G>A (p.Glu9Lys) AND Intellectual disability, X-linked 30
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002465404.1
Allele description [Variation Report for NM_002578.5(PAK3):c.25G>A (p.Glu9Lys)]
NM_002578.5(PAK3):c.25G>A (p.Glu9Lys)
Condition(s)
-
ASXL3-Related Disorder - GeneReviews®
ASXL3-Related Disorder - GeneReviews®
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See more...Assertion and evidence details
Last Updated: Aug 5, 2023