NM_001371596.2(MFSD8):c.754+1G>A AND Neuronal ceroid lipofuscinosis 7
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001204062.7
Allele description [Variation Report for NM_001371596.2(MFSD8):c.754+1G>A]
NM_001371596.2(MFSD8):c.754+1G>A
Condition(s)
-
Lychnorhiza sp. 1 LGD-2017 isolate M0D020006L_MXOASCZ 28S large subunit ribosoma...
Lychnorhiza sp. 1 LGD-2017 isolate M0D020006L_MXOASCZ 28S large subunit ribosomal RNA gene, partial sequencegi|1276727270|gb|KY610915.1|Nucleotide
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Lychnorhiza sp. CRPUDOM voucher M0D021304J cytochrome c oxidase subunit I (COI) ...
Lychnorhiza sp. CRPUDOM voucher M0D021304J cytochrome c oxidase subunit I (COI) gene, partial cds; mitochondrialgi|1376334396|gb|MF742301.1|Nucleotide
-
Behcet Syndrome
Behcet SyndromeRare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region an...<br/>Year introduced: 2003 (1963)MeSH
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024