Variant #0000403843 (NC_000023.10:g.100443248_100639269del, NC_000023.10(NM_000061.2):c.-31+1781_*161625del (BTK))

Individual ID 00179461
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.100443248_100639269del
DNA change (hg38) g.101188262_101384283del
Published as -
ISCN -
DB-ID BTK_000931
Variant remarks 196 kb deletion (sequences Fig.3 incorrect, top BTK, bottom DRP2, junction sequence?)
Reference PubMed: Arai 2011
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 2018-08-22 21:00:37 +02:00 (CEST)
Date last edited 2020-07-26 16:56:27 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

VariO/DNA     

VariO/RNA     

VariO/Protein     

P-domain     

Protein level     

mRNA level     

Enzyme activity     

CpG     
BTK NM_000061.2 +/. 1i_19_ c.-31+1781_*161625del r.0? p.0? DNA deletion (VariO:0141) - - PH; TH; SH3; SH2; TK - - - -
DRP2 NM_001939.2 +/. _1_24_ c.-32054_*123659del r.0 p.0 - - - - - - - -
TIMM8A NM_004085.3 +/. _1_2_ c.-35617_*158239del r.0 p.0 - - - - - - - -
TAF7L NM_024885.3 +/. _1_13_ c.-91236_*80933del r.0 p.0 - - - - - - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000180365 DNA PCR;SEQ - - BTK 1 Johan den Dunnen


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