Full data view for gene IBA57

Information The variants shown are described using the NM_001010867.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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.*5015A>G r.(=) p.(=) Unknown g.228180528A>G - IBA57_000001 rs6666843 0.0191 11 1 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.*8539A>G - - Unknown g.228184052A>G - IBA57_000002 rs4653917 0.6794 150 155 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.*8847C>T - - Unknown g.228184360C>T - IBA57_000003 rs1059778 0.3647 136 56 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.*10355C>T - - Unknown g.228185868C>T - IBA57_000004 rs2313599 0.0294 12 4 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.*11037C>T - - Unknown g.228186550C>T - IBA57_000005 rs2185544 0.4250 171 59 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
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