Full data view for gene IBTK

Information The variants shown are described using the NM_015525.3 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Heterozygote     

Homozygous     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
./. - c.1427-810T>C - - Unknown g.82217060A>G - IBTK_000005 rs7743511 0.2118 122 11 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.2509+1518G>A - - Unknown g.82209296C>T - IBTK_000006 rs9344258 0.6000 157 125 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.3575+1094T>C - - Unknown g.82189979A>G - IBTK_000004 rs9359515 0.7985 123 209 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.3576-4126G>A - - Unknown g.82186154C>T - IBTK_000003 rs9361896 0.7765 136 195 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.3725+784G>C - - Unknown g.82181095C>G - IBTK_000002 rs9361895 0.2779 100 44 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.3925G>A - - Unknown g.82172385C>T - IBTK_000001 rs16893967 0.0235 14 1 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
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