NM_172107.4(KCNQ2):c.733C>G (p.Leu245Val) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003590167.2
Allele description [Variation Report for NM_172107.4(KCNQ2):c.733C>G (p.Leu245Val)]
NM_172107.4(KCNQ2):c.733C>G (p.Leu245Val)
Condition(s)
-
hcfc1b [Poecilia formosa]
hcfc1b [Poecilia formosa]Gene ID:103130748Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024