NM_001184880.2(PCDH19):c.787A>C (p.Ser263Arg) AND Developmental and epileptic encephalopathy, 9
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002303449.4
Allele description [Variation Report for NM_001184880.2(PCDH19):c.787A>C (p.Ser263Arg)]
NM_001184880.2(PCDH19):c.787A>C (p.Ser263Arg)
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
-
SRX4119641 (1)
SRA
-
MHC class II antigen, partial [Ursus thibetanus mupinensis]
MHC class II antigen, partial [Ursus thibetanus mupinensis]gi|2252558201|gb|USC27785.1|Protein
-
brain-derived neurotrophic factor, partial [Chrysemys picta]
brain-derived neurotrophic factor, partial [Chrysemys picta]gi|264681759|gb|ACY72453.1|Protein
-
cytochrome c oxidase subunit I, partial (mitochondrion) [Manouria emys]
cytochrome c oxidase subunit I, partial (mitochondrion) [Manouria emys]gi|2323175955|gb|UYT58165.1|Protein
-
zinc finger and SCAN domain-containing protein 31 isoform 1 [Homo sapiens]
zinc finger and SCAN domain-containing protein 31 isoform 1 [Homo sapiens]gi|206725432|ref|NP_112161.3|Protein
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Last Updated: Sep 29, 2024