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NM_001184880.2(PCDH19):c.863_867dup (p.Gln290fs) AND Developmental and epileptic encephalopathy, 9

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003389939.2

Allele description [Variation Report for NM_001184880.2(PCDH19):c.863_867dup (p.Gln290fs)]

NM_001184880.2(PCDH19):c.863_867dup (p.Gln290fs)

Gene:
PCDH19:protocadherin 19 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xq22.1
Genomic location:
Preferred name:
NM_001184880.2(PCDH19):c.863_867dup (p.Gln290fs)
HGVS:
  • NC_000023.11:g.100407731_100407735dup
  • NG_021319.1:g.7539_7543dup
  • NM_001105243.2:c.863_867dup
  • NM_001184880.2:c.863_867dupMANE SELECT
  • NM_020766.3:c.863_867dup
  • NP_001098713.1:p.Gln290fs
  • NP_001171809.1:p.Gln290fs
  • NP_065817.2:p.Gln290fs
  • LRG_843t1:c.863_867dup
  • LRG_843:g.7539_7543dup
  • LRG_843p1:p.Gln290fs
  • NC_000023.10:g.99662729_99662733dup
Protein change:
Q290fs
Molecular consequence:
  • NM_001105243.2:c.863_867dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001184880.2:c.863_867dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_020766.3:c.863_867dup - frameshift variant - [Sequence Ontology: SO:0001589]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004100845Department of Developmental Neurology, Medical University of Gdańsk
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Polishunknownyes1not providednot providednot providednot providedphenotyping only

Details of each submission

From Department of Developmental Neurology, Medical University of Gdańsk, SCV004100845.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Polish1not providednot providedphenotyping onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024