NM_172107.4(KCNQ2):c.2079C>G (p.Ser693Arg) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 10, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001304463.8
Allele description [Variation Report for NM_172107.4(KCNQ2):c.2079C>G (p.Ser693Arg)]
NM_172107.4(KCNQ2):c.2079C>G (p.Ser693Arg)
Condition(s)
-
AV Block Second Degree Mobitz Type I by ECG Finding
AV Block Second Degree Mobitz Type I by ECG FindingMedGen
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Wandering atrial pacemaker
Wandering atrial pacemakerMedGen
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Homologene neighbors for GEO Profiles (Select 125840369) (0)
GEO Profiles
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OMIM Links for GEO Profiles (Select 14109358) (1)
OMIM
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Rheinheimera arenilitoris strain EWF1 16S ribosomal RNA gene, partial sequence
Rheinheimera arenilitoris strain EWF1 16S ribosomal RNA gene, partial sequencegi|1767042957|gb|MN582962.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024