NM_000744.7(CHRNA4):c.511G>A (p.Asp171Asn) AND Autosomal dominant nocturnal frontal lobe epilepsy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003774870.2
Allele description [Variation Report for NM_000744.7(CHRNA4):c.511G>A (p.Asp171Asn)]
NM_000744.7(CHRNA4):c.511G>A (p.Asp171Asn)
Condition(s)
- Name:
- Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)
- Identifiers:
- MONDO: MONDO:0020300; MedGen: C3696898
-
Homo sapiens isolate:CHM13
Homo sapiens isolate:CHM13Homo sapiens isolate:CHM13 RefSeq Genome sequencing and assemblyBioProject
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BioProject Links for Nucleotide (Select 2462613981) (1)
BioProject
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024