Genomic variant #0000269407

Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.100630242G>A
DNA change (hg38) -
Published as BTK(NM_000061.2):c.31C>T (p.L11=)
ISCN -
DB-ID BTK_000922
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




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.31C>T r.(?) pathogenic p.(=) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) - - PH - - - - -