Genomic variant #0000083178

Individual ID 00053290
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.100630230G>A
DNA change (hg38) g.101375242G>A
Published as -
ISCN -
DB-ID BTK_000335 See all 5 reported entries
Variant remarks -
Reference IDbase_AccNr: A0562
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Dr. Mary-Ellen Conley




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.43C>T r.(43c>u) - p.(Gln15*) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);nonsense variation (VariO:0310) protein truncation (VariO:0015) PH - - - - caa -> taa; 1



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000053237 DNA;DNA ? - - BTK 1 Dr. Mary-Ellen Conley