NM_004519.4(KCNQ3):c.2262C>T (p.Leu754=) AND Benign Neonatal Epilepsy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000345087.5
Allele description [Variation Report for NM_004519.4(KCNQ3):c.2262C>T (p.Leu754=)]
NM_004519.4(KCNQ3):c.2262C>T (p.Leu754=)
Condition(s)
- Name:
- Benign Neonatal Epilepsy
- Identifiers:
- MedGen: C0270851
-
Pde10a, partial [Mus musculus]
Pde10a, partial [Mus musculus]gi|33112726|gb|AAP94050.1|Protein
-
Trapa natans chloroplast, complete genome
Trapa natans chloroplast, complete genomegi|1654700562|gb|MK881634.1|Nucleotide
-
C3152102[conceptid] (1)
MedGen
-
USH1D/F, CDH23/PCDH15, DIGENIC
USH1D/F, CDH23/PCDH15, DIGENICMedGen
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See more...Assertion and evidence details
Last Updated: May 26, 2024