All transcript variants in gene BTK

BTKbase is part of the IDbases
Information The variants shown are described using the NM_000061.2 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

ClassClinical     

Protein     

VariO/DNA     

VariO/RNA     

VariO/Protein     

P-domain     

Protein level     

mRNA level     

Enzyme activity     

CpG     

Codon change     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. 1 c.-58A>G r.(=) - p.(=) DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) - - PH - - - - - g.100641077T>C g.101386089T>C 5'UTR-58A>G - BTK_000307 mother is not carrier PubMed: Lee, P. P 2010, IDbase_AccNr: A1428 - - De novo - - - 0 - Gerard C.P. Schaafsma
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