NM_001184880.2(PCDH19):c.811G>A (p.Gly271Ser) AND Developmental and epileptic encephalopathy, 9
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 1, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001314479.7
Allele description [Variation Report for NM_001184880.2(PCDH19):c.811G>A (p.Gly271Ser)]
NM_001184880.2(PCDH19):c.811G>A (p.Gly271Ser)
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
-
LOC130084783 [Rhinichthys klamathensis goyatoka]
LOC130084783 [Rhinichthys klamathensis goyatoka]Gene ID:130084783Gene
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Last Updated: Sep 29, 2024