NM_000080.4(CHRNE):c.500+8G>T AND Congenital myasthenic syndrome 4A
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002685462.3
Allele description [Variation Report for NM_000080.4(CHRNE):c.500+8G>T]
NM_000080.4(CHRNE):c.500+8G>T
Condition(s)
-
protein phosphatase 1F [Capsaspora owczarzaki ATCC 30864]
protein phosphatase 1F [Capsaspora owczarzaki ATCC 30864]gi|320165345|gb|EFW42244.1||gnl|WGS |CAOG_07629T0Protein
-
PREDICTED: Arabidopsis lyrata subsp. lyrata beta-glucosidase 10 (LOC9303552), tr...
PREDICTED: Arabidopsis lyrata subsp. lyrata beta-glucosidase 10 (LOC9303552), transcript variant X1, mRNAgi|1191004396|ref|XM_002867434.2|Nucleotide
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Last Updated: Oct 8, 2024