Variant #0000936507 (NC_000023.10:g.91548808_99612513del, NM_001184880.1:c.2617-6811_*4633{0} (PCDH19))

Individual ID 00438596
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.91548808_99612513del
DNA change (hg38) g.92293810_100357515del
Published as -
ISCN -
DB-ID PCDH19_000250
Variant remarks -
Reference PubMed: Hamdan 2017
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-10-21 21:28:18 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCDH19 NM_001184880.1 +/. 3i_6_ c.2617-6811_*4633{0} r.? p.?
PCDH19 NM_020766.2 +/. - c.2476-6811_*4633{0} r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000440078 DNA SEQ;SEQ-NG - WGS - 3 Johan den Dunnen


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