Variant #0000058919 (NC_000023.10:g.99663194G>T, NM_001184880.1:c.402C>A (PCDH19))

Individual ID 00032683
Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.99663194G>T
DNA change (hg38) g.100408196G>T
Published as -
ISCN -
DB-ID PCDH19_000085 See all 4 reported entries
Variant remarks -
Reference PubMed: Hynes 2010
ClinVar ID -
dbSNP ID rs41300169
Origin Unknown
Segregation -
Frequency 0.0780
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.1298 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2011-12-12 23:19:57 +01:00 (CET)
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 -/. 1 c.402C>A r.(=) p.(Ile134=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000032751 DNA SEQ - - PCDH19 1 Johan den Dunnen


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