Genomic variant #0000083719

Individual ID 00053831
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.100630243dup
DNA change (hg38) g.101375255dup
Published as -
ISCN -
DB-ID BTK_000374
Variant remarks -
Reference PubMed: Holinski-Feder, E 1998, IDbase_AccNr: A0327
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Dr. Michael Weiss




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 +?/. 2 c.30dup r.(30dup) - p.(Leu11Serfs*31) DNA insertion (VariO:0142) out-of-frame insertion (VariO:0327) amphigoric amino acid indel (VariO:0023);protein truncation (VariO:0015) PH absent - inactive - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000053778 DNA;DNA ? - - BTK 1 Dr. Michael Weiss