Variant #0000368448 (NC_000023.10:g.99663415dup, NM_001184880.1:c.183dup (PCDH19))

Individual ID 00163973
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.99663415dup
DNA change (hg38) g.100408417dup
Published as 183_184insT
ISCN -
DB-ID PCDH19_000167
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Xiaoxu Yang
Database submission license No license selected
Created by Xiaoxu Yang
Date created 2018-04-30 10:49:28 +02:00 (CEST)
Date last edited 2020-07-20 17:37:28 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCDH19 NM_001184880.1 +/. 1 c.183dup r.(?) p.(Arg62Serfs*27)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000164839 DNA PCR - - PCDH19 1 Xiaoxu Yang


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