NM_000080.4(CHRNE):c.390C>T (p.Val130=) AND Congenital myasthenic syndrome 4A
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 24, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003641144.2
Allele description [Variation Report for NM_000080.4(CHRNE):c.390C>T (p.Val130=)]
NM_000080.4(CHRNE):c.390C>T (p.Val130=)
Condition(s)
-
zinc binding alcohol dehydrogenase [Homo sapiens]
zinc binding alcohol dehydrogenase [Homo sapiens]gi|40218007|gb|AAR82927.1|Protein
-
JGI_XZT60694.rev NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7635583 3'...
JGI_XZT60694.rev NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7635583 3', mRNA sequencegi|57075672|gnl|dbEST|26961064|gb|C 00.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024