Variant #0000084064 (NC_000023.10:g.100641045C>G, NC_000023.10(NM_000061.2):c.-31+5G>C (BTK))

Individual ID 00054176
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.100641045C>G
DNA change (hg38) g.101386057C>G
Published as IVS1+5G>C
ISCN -
DB-ID BTK_000304 See all 5 reported entries
Variant remarks Splice donor defect
Reference PubMed: Aghamohammadi, A 2006, IDbase_AccNr: A1204
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Asghar Aghamohammadi
Database submission license No license selected
Created by Asghar Aghamohammadi
Date created 2006-11-15 00:00:00 +01:00 (CET)
Date last edited 2021-07-01 08:54:06 +02:00 (CEST)
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Variant on transcripts


Gene     

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CpG     
BTK NM_000061.2 +/+ 1i c.-31+5G>C r.spl p.0 DNA substitution (VariO:0136);transversion (VariO:0316) RNA splicing change (VariO:0334) missing protein (VariO:0240) - absent - - -



Screenings


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Owner     
0000054123 DNA ? - - BTK 1 Asghar Aghamohammadi


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