NM_001184880.2(PCDH19):c.814C>T (p.Gln272Ter) AND Developmental and epileptic encephalopathy, 9
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 24, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001054719.9
Allele description [Variation Report for NM_001184880.2(PCDH19):c.814C>T (p.Gln272Ter)]
NM_001184880.2(PCDH19):c.814C>T (p.Gln272Ter)
Condition(s)
- Name:
- Developmental and epileptic encephalopathy, 9 (DEE9)
- Synonyms:
- EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION; JUBERG-HELLMAN SYNDROME; PCDH19-Related X-Linked Female-Limited Epilepsy with Mental Retardation; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010246; MedGen: C1848137; Orphanet: 2076; OMIM: 300088
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UI-CF-EN1-adh-e-12-0-UI.s1 UI-CF-EN1 Homo sapiens cDNA clone UI-CF-EN1-adh-e-12-...
UI-CF-EN1-adh-e-12-0-UI.s1 UI-CF-EN1 Homo sapiens cDNA clone UI-CF-EN1-adh-e-12-0-UI 3', mRNA sequencegi|19603663|gnl|dbEST|11799607|gb|B 09.1|Nucleotide
-
Homo sapiens golgi autoantigen, golgin subfamily a, 3, mRNA (cDNA clone MGC:1648...
Homo sapiens golgi autoantigen, golgin subfamily a, 3, mRNA (cDNA clone MGC:164894 IMAGE:40148073), complete cdsgi|148744348|gb|BC142658.1|Nucleotide
-
UI-1-BB1-aib-e-02-0-UI.s1 NCI_CGAP_Pl5 Homo sapiens cDNA clone UI-1-BB1-aib-e-02...
UI-1-BB1-aib-e-02-0-UI.s1 NCI_CGAP_Pl5 Homo sapiens cDNA clone UI-1-BB1-aib-e-02-0-UI 3', mRNA sequencegi|23710546|gnl|dbEST|14217476|gb|B 79.1|Nucleotide
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Last Updated: Sep 29, 2024