View genomic variant #0000003660

Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.99663454C>A
Published as -
GERP 5.700
Segregation -
DB-ID PCDH19_000003
MSCV MSCV_0003660
dbSNP ID rs132630326
Frequency -
Sources ; clinvar;
Reference 19214208
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts

1 entry on 1 page. Showing entry 1.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
PCDH19 00003248 NM_020766.2 0000003660 +/+ c.142G>T p.(Glu48*) stop_gained - 1/5 - r.(?) -
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ClinVar @ MSeqDR

RCVaccession RCV000011767;
Chromosome X:99663454..99663454
ClinVar Allele ID 26059
Disease database name and identifier MedGen:C1848137, OMIM:300088, Orphanet:ORPHA101039
ClinVar preferred disease name Early infantile epileptic encephalopathy 9
HGVS variant names NC 000023.10:g.99663454C>A
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:300460.0006
Gene symbol:Gene id. PCDH19:57526
Molecular consequence SO:0001587|nonsense
Allele origin germline
dbSNP ID 132630326
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
rs132630326X9966345499663454C/AOMIM phenotype variantsEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9
CM091298X9966345499663454HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available