NM_001184880.2(PCDH19):c.593G>T (p.Arg198Leu) AND developmental delay with seizures

Clinical significance:Likely pathogenic (Last evaluated: Aug 30, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000678823.1

Allele description [Variation Report for NM_001184880.2(PCDH19):c.593G>T (p.Arg198Leu)]

NM_001184880.2(PCDH19):c.593G>T (p.Arg198Leu)

Gene:
PCDH19:protocadherin 19 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq22.1
Genomic location:
Preferred name:
NM_001184880.2(PCDH19):c.593G>T (p.Arg198Leu)
HGVS:
  • NC_000023.11:g.100408005C>A
  • NG_021319.1:g.7269G>T
  • NM_001105243.2:c.593G>T
  • NM_001184880.2:c.593G>TMANE SELECT
  • NM_020766.3:c.593G>T
  • NP_001098713.1:p.Arg198Leu
  • NP_001171809.1:p.Arg198Leu
  • NP_065817.2:p.Arg198Leu
  • LRG_843t1:c.593G>T
  • LRG_843:g.7269G>T
  • LRG_843p1:p.Arg198Leu
  • NC_000023.10:g.99663003C>A
  • NM_001184880.1:c.593G>T
Protein change:
R198L
Links:
dbSNP: rs772837341
NCBI 1000 Genomes Browser:
rs772837341
Molecular consequence:
  • NM_001105243.2:c.593G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001184880.2:c.593G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020766.3:c.593G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
developmental delay with seizures
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000805009Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospitalno assertion criteria providedLikely pathogenic
(Aug 30, 2016)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital, SCV000805009.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 10, 2021

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