NM_001184880.2(PCDH19):c.1153C>G (p.Gln385Glu) AND Developmental and epileptic encephalopathy, 9
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 19, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001194605.1
Allele description [Variation Report for NM_001184880.2(PCDH19):c.1153C>G (p.Gln385Glu)]
NM_001184880.2(PCDH19):c.1153C>G (p.Gln385Glu)
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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ribosomal protein L33 (chloroplast) [Hymenopus macrophyllus]
ribosomal protein L33 (chloroplast) [Hymenopus macrophyllus]gi|1043376617|ref|YP_009264959.1|Protein
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photosystem II protein Z (chloroplast) [Hymenopus macrophyllus]
photosystem II protein Z (chloroplast) [Hymenopus macrophyllus]gi|1043376618|ref|YP_009264935.1|Protein
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dai99a07.y1 NICHD_XGC_Ov1 Xenopus laevis cDNA clone IMAGE:5048364 5' similar to ...
dai99a07.y1 NICHD_XGC_Ov1 Xenopus laevis cDNA clone IMAGE:5048364 5' similar to TR:Q9QZP0 Q9QZP0 NEPHROCYSTIN. [1], mRNA sequencegi|17925876|gnl|dbEST|10655929|gb|B 36.1|Nucleotide
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Last Updated: Aug 5, 2023