Full data view for gene PMM2

Information The variants shown are described using the NM_000303.2 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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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.347+171C>T r.(=) p.(=) Unknown g.8806578C>T - PMM2_000020 rs17566708 0.1397 31 31 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.347+550C>T r.(=) p.(=) Unknown g.8806957C>T - PMM2_000016 rs17651644 0.2221 117 17 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.347+1018C>T - - Unknown g.8807425C>T - PMM2_000017 rs8046212 0.8338 78 244 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.347+2146A>G - - Unknown g.8808553A>G - PMM2_000018 rs4985037 0.8529 85 247 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.348-2160C>G - - Unknown g.8808919C>G - PMM2_000019 rs4985038 0.7485 107 200 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.348-2067C>G - - Unknown g.8809012C>G - PMM2_000001 rs1997381 0.8662 74 257 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.633C>T - - Unknown g.8813100C>T - PMM2_000002 rs3743808 0.9838 11 328 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.639+61C>T - - Unknown g.8813167C>T - PMM2_000003 rs3743807 0.1574 82 12 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.639+3790C>G - - Unknown g.8816896C>G - PMM2_000004 rs8048087 0.8824 72 263 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.639+4038A>C r.(=) p.(=) Unknown g.8817144A>C - PMM2_000005 rs8056319 0.0456 19 6 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.639+4110A>G - - Unknown g.8817216A>G - PMM2_000006 rs1529913 0.8338 84 241 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.639+6017C>T - - Unknown g.8819123C>T - PMM2_000007 rs3743814 0.8691 62 264 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.639+6150C>G - - Unknown g.8819256C>G - PMM2_000008 rs1529914 0.1279 74 6 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.639+6840A>C r.(=) p.(=) Unknown g.8819946A>C - PMM2_000009 rs1985263 0.1618 66 21 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.639+7183G>T - - Unknown g.8820289G>T - PMM2_000010 rs7190763 0.0206 14 0 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.639+7941A>T r.(=) p.(=) Unknown g.8821047A>T - PMM2_000011 rs4457993 0.8074 104 222 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.640-1160A>C - - Unknown g.8846564A>C - PMM2_000012 rs11645498 0.3691 148 51 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.*559C>T r.(=) p.(=) Unknown g.8848384C>T - PMM2_000013 rs2447928 0.9353 32 301 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.*996A>G - - Unknown g.8848821A>G - PMM2_000014 rs1056898 0.2853 118 38 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.*1594C>T - - Unknown g.8849419C>T - PMM2_000015 rs2447927 0.1029 61 4 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
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