NM_152393.4(KLHL40):c.1276G>A (p.Glu426Lys) AND Nemaline myopathy 8
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 2, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001951902.6
Allele description [Variation Report for NM_152393.4(KLHL40):c.1276G>A (p.Glu426Lys)]
NM_152393.4(KLHL40):c.1276G>A (p.Glu426Lys)
Condition(s)
-
cytochrome oxidase subunit 1, partial (mitochondrion) [Telamonia dimidiata]
cytochrome oxidase subunit 1, partial (mitochondrion) [Telamonia dimidiata]gi|1675201122|gb|QCW08594.1|Protein
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Last Updated: Sep 29, 2024