Genomic variant #0000084064

Individual ID 00054176
Chromosome X
Allele Paternal (inferred)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.100641045C>G
DNA change (hg38) g.101386057C>G
Published as IVS1+5G>C
ISCN -
DB-ID BTK_000304 See all 5 reported entries
Variant remarks Splice donor defect
Reference PubMed: Aghamohammadi, A 2006, IDbase_AccNr: A1204
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 Asghar Aghamohammadi




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 +?/. 1i c.-31+5G>C r.(spl?) - p.? DNA substitution (VariO:0136);transversion (VariO:0316) - - - absent - - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000054123 DNA;DNA ? - - BTK 1 Asghar Aghamohammadi