Variant #0000169478 (NC_000013.10:g.100763477_100768245del, NC_000013.10(NM_000282.3):c.184-618_300+3930del (PCCA))

Individual ID 00104062
Chromosome 13
Allele Both (homozygous)
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.100763477_100768245del
DNA change (hg38) g.100111223_100115991del
Published as 184-558del4779
ISCN -
DB-ID PCCA_000013 See all 2 reported entries
Variant remarks 4.8 Kb deletion
Reference PubMed: Desviat 2009
ClinVar ID -
dbSNP ID -
Origin Germline
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 2011-11-25 18:54:20 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCCA NM_000282.3 +/. 2i_4i c.184-618_300+3930del r.184_300del p.Thr62_Ser100del



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000104533 DNA;RNA RT-PCR;SEQ - - PCCA 1 Johan den Dunnen


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