NM_005670.4(EPM2A):c.208G>C (p.Glu70Gln) AND Lafora disease
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 21, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001801687.14
Allele description [Variation Report for NM_005670.4(EPM2A):c.208G>C (p.Glu70Gln)]
NM_005670.4(EPM2A):c.208G>C (p.Glu70Gln)
Condition(s)
-
NADH dehydrogenase subunit 3 (mitochondrion) [Homo sapiens]
NADH dehydrogenase subunit 3 (mitochondrion) [Homo sapiens]gi|1253213677|gb|ATI24665.1|Protein
-
NADH dehydrogenase subunit 1 (mitochondrion) [Homo sapiens]
NADH dehydrogenase subunit 1 (mitochondrion) [Homo sapiens]gi|1253213684|gb|ATI24671.1|Protein
-
Tripneustes ventricosus isolate (1)3 reverse transcriptase gene, partial cds
Tripneustes ventricosus isolate (1)3 reverse transcriptase gene, partial cdsgi|6457081|gb|AF198093.1|Nucleotide
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Last Updated: Sep 16, 2024