NM_001367561.1(DOCK7):c.6184C>T (p.Arg2062Ter) AND Developmental and epileptic encephalopathy, 23
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003055399.2
Allele description [Variation Report for NM_001367561.1(DOCK7):c.6184C>T (p.Arg2062Ter)]
NM_001367561.1(DOCK7):c.6184C>T (p.Arg2062Ter)
Condition(s)
-
DHCR7 [Macaca fascicularis]
DHCR7 [Macaca fascicularis]Gene ID:102120769Gene
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024