NM_144988.4(ALG14):c.40G>A (p.Val14Met) AND Congenital myasthenic syndrome 15
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000652504.11
-
large ribosomal subunit protein mL52 isoform X2 [Homo sapiens]
large ribosomal subunit protein mL52 isoform X2 [Homo sapiens]gi|2462538798|ref|XP_054231336.1|Protein
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Hylomyscus simus voucher ZFMK-DNA-FD19592340 cytochrome oxidase subunit 1 (COI) ...
Hylomyscus simus voucher ZFMK-DNA-FD19592340 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrialgi|2634319828|gnl|uoguelph|LIBBB069 OI-5P|gb|OQ025673.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024