NM_172107.4(KCNQ2):c.2102_2104del (p.Phe701del) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000545156.7
Allele description [Variation Report for NM_172107.4(KCNQ2):c.2102_2104del (p.Phe701del)]
NM_172107.4(KCNQ2):c.2102_2104del (p.Phe701del)
Condition(s)
-
Squalus chloroculus isolate Sch_044 5.8S ribosomal RNA gene and internal transcr...
Squalus chloroculus isolate Sch_044 5.8S ribosomal RNA gene and internal transcribed spacer 2, partial sequencegi|1475716570|gb|MG655065.1|Nucleotide
-
Homo sapiens clone DNA52598 CILP (UNQ602) mRNA, complete cds
Homo sapiens clone DNA52598 CILP (UNQ602) mRNA, complete cdsgi|37182925|gb|AY358904.1|Nucleotide
-
Breastfeeding Jaundice
Breastfeeding JaundiceMedGen
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Lucey-Driscoll syndrome
Lucey-Driscoll syndromeMedGen
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See more...Assertion and evidence details
Last Updated: Apr 15, 2024