Genomic variant #0000130306

Individual ID 00081106
Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_100604441)_?del
DNA change (hg38) -
Published as -
ISCN -
DB-ID BTK_000898
Variant remarks deletion including 3" end of BTK gene and including al least part of exon 19
Reference IDbase_AccNr: A0611
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 +?/. 19 c.(?_*432)_?del r.(=) - p.(=) DNA deletion (VariO:0141) - - TK - - - - -



Screenings

Stop! No screenings found!