Genomic variant #0000130324

Individual ID 00081123
Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_100641050)_(100641212_?)[del(3000)]
DNA change (hg38) -
Published as -
ISCN -
DB-ID BTK_000776
Variant remarks deletion of 3.5 kb encompassing exon 1, undefined borders
Reference Hendriks, RW; pers. comm., IDbase_AccNr: A0028
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Genomic location of variant could not be determined
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

ClassClinical     

Protein     

VariO/DNA     

VariO/RNA     

VariO/Protein     

P-domain     

Protein level     

mRNA level     

Enzyme activity     

CpG     

Codon change     
BTK NM_000061.2 +?/-? 1 c.(?_-193)_(-31_?)del(3500) r.? likely pathogenic p.? DNA deletion (VariO:0141) - - - - - - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081235 DNA ? - - BTK 1 Gerard C.P. Schaafsma