Full data view for gene AARD

Information The variants shown are described using the NM_001025357.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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.324+285C>T - - Unknown g.116938852C>T - AARD_000001 rs16889284 0.9279 33 298 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.324+431A>C r.(=) p.(=) Unknown g.116938998A>C - AARD_000002 rs16889285 0.9824 8 329 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.324+714G>T - - Unknown g.116939281G>T - AARD_000003 rs6998067 0.4044 139 67 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
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