NM_172107.4(KCNQ2):c.2088G>A (p.Thr696=) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001446543.8
Allele description [Variation Report for NM_172107.4(KCNQ2):c.2088G>A (p.Thr696=)]
NM_172107.4(KCNQ2):c.2088G>A (p.Thr696=)
Condition(s)
-
PREDICTED: Strigops habroptila contactin 4 (CNTN4), transcript variant X2, mRNA
PREDICTED: Strigops habroptila contactin 4 (CNTN4), transcript variant X2, mRNAgi|1728946138|ref|XM_030500859.1|Nucleotide
-
essv7015267 (2)
dbVar
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024