Full data view for gene L2HGDH

Information The variants shown are described using the NM_024884.2 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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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.540+2581T>C - - Unknown g.50291534A>G - L2HGDH_000013 rs17122357 0.9485 19 312 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.541-2124G>A - - Unknown g.50286157C>T - L2HGDH_000012 rs12882001 0.9397 35 301 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.704-2064C>A r.(=) p.(=) Unknown g.50280618G>T - L2HGDH_000011 rs12432105 0.4574 164 73 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.738+2990T>C - - Unknown g.50275530A>G - L2HGDH_000010 rs4901009 0.6662 140 156 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.739-3998G>A - - Unknown g.50273328C>T - L2HGDH_000009 rs17406958 0.0265 14 2 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.739-1620G>A - - Unknown g.50270950C>T - L2HGDH_000008 rs4901008 0.6235 156 133 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.739-676G>A - - Unknown g.50270006C>T - L2HGDH_000007 rs2153553 0.4809 164 81 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.1065-739T>C - - Unknown g.50266228A>G - L2HGDH_000006 rs2355885 0.5191 160 96 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.1196+2827T>C - - Unknown g.50262531A>G - L2HGDH_000005 rs4901007 0.4794 165 80 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.1196+5067G>C - - Unknown g.50260291C>G - L2HGDH_000004 rs8013289 0.5485 170 101 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.1196+8117T>C r.(=) p.(=) Unknown g.50257241A>G - L2HGDH_000003 rs910641 0.8603 75 254 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.1197-302T>C r.(=) p.(=) Unknown g.50247555A>G - L2HGDH_000002 rs737078 0.4897 160 86 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.1197-222G>A - - Unknown g.50247475C>T - L2HGDH_000001 rs737077 0.3544 150 45 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
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