NM_001101362.3(KBTBD13):c.757C>T (p.Leu253=) AND Nemaline myopathy 6
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000982753.9
Allele description [Variation Report for NM_001101362.3(KBTBD13):c.757C>T (p.Leu253=)]
NM_001101362.3(KBTBD13):c.757C>T (p.Leu253=)
Condition(s)
-
serine/threonine-protein kinase PAK 2 [Mus musculus]
serine/threonine-protein kinase PAK 2 [Mus musculus]gi|46559406|ref|NP_796300.1|Protein
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Last Updated: Sep 29, 2024