Variant #0000083072 (NC_000023.10:g.100617204del, NM_000061.2:c.546del (BTK))

Individual ID 00053184
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.100617204del
DNA change (hg38) g.101362216del
Published as -
ISCN -
DB-ID BTK_000034
Variant remarks -
Reference PubMed: Noordzij, J. G 2002, PubMed: Noordzij, J. G 2002, IDbase_AccNr: A0422
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Patrizia Melia
Database submission license No license selected
Created by Patrizia Melia
Date created 1997-09-05 00:00:00 +02:00 (CEST)
Date last edited 2021-05-06 09:46:33 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

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P-domain     

Protein level     

mRNA level     

Enzyme activity     

CpG     
BTK NM_000061.2 +/+ 7 c.546del r.0 p.0 DNA deletion (VariO:0141) out-of-frame deletion (VariO:0321);missing RNA (VariO:0245) missing protein (VariO:0240) TH - - - -



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000053131 DNA ? - - BTK 1 Patrizia Melia


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