NM_001184880.2(PCDH19):c.799G>A (p.Glu267Lys) AND Developmental and epileptic encephalopathy, 9
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 8, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000821479.7
Allele description [Variation Report for NM_001184880.2(PCDH19):c.799G>A (p.Glu267Lys)]
NM_001184880.2(PCDH19):c.799G>A (p.Glu267Lys)
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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KLK1 kallikrein 1 [Homo sapiens]
KLK1 kallikrein 1 [Homo sapiens]Gene ID:3816Gene
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Gene Links for GEO Profiles (Select 101917135) (1)
Gene
-
RTT102 Rtt102p [Saccharomyces cerevisiae S288C]
RTT102 Rtt102p [Saccharomyces cerevisiae S288C]Gene ID:853192Gene
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Gene Links for GEO Profiles (Select 66726283) (1)
Gene
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Related DataSets for GEO Profiles (Select 101917142) (1)
GEO DataSets
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024