Genomic variant #0000130325

Individual ID 00081124
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_100608182)_(100608976_?)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID BTK_000828
Variant remarks large undefined deletion, exon 17, 18 absent. Exons 15, 16 variably skipped; mother is carrier
Reference PubMed: Haire, R. N (1997); IDbase_AccNr: A0287
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Dr. Gary W. Litman




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 +?/. - c.(1632-?)_(1908+?)del r.? - p.? DNA deletion (VariO:0141) - - TK - - - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081236 DNA ? - - BTK 1 Dr. Gary W. Litman