NM_152393.4(KLHL40):c.1153-2A>T AND Nemaline myopathy 8
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 30, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000651589.5
Allele description [Variation Report for NM_152393.4(KLHL40):c.1153-2A>T]
NM_152393.4(KLHL40):c.1153-2A>T
Condition(s)
-
UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit...
UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit isoform X2 [Puma concolor]gi|1435044906|ref|XP_025789678.1|Protein
-
LOC127826455 [Homo sapiens]
LOC127826455 [Homo sapiens]Gene ID:127826455Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024