NM_001184880.2(PCDH19):c.922G>A (p.Glu308Lys) AND Developmental and epileptic encephalopathy, 9
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001318419.7
Allele description [Variation Report for NM_001184880.2(PCDH19):c.922G>A (p.Glu308Lys)]
NM_001184880.2(PCDH19):c.922G>A (p.Glu308Lys)
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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Taxonomy Links for GEO Profiles (Select 119177371) (1)
Taxonomy
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LOC105378130 [Homo sapiens]
LOC105378130 [Homo sapiens]Gene ID:105378130Gene
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Gene Links for GEO Profiles (Select 76491029) (1)
Gene
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HUVECs infected with Staphylococcus aureus isolates from blood and anterior nare...
HUVECs infected with Staphylococcus aureus isolates from blood and anterior naresAccession: GDS4030GEO DataSets
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Related DataSets for GEO Profiles (Select 76486159) (1)
GEO DataSets
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Last Updated: Sep 29, 2024