Full data view for gene HARS

Information The variants shown are described using the NM_002109.5 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.180+293T>C - - Unknown g.140690562A>G - HARS_000005 rs7706544 0.9868 5 332 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.180+1894T>C - - Unknown g.140688961A>G - HARS_000004 rs6880190 0.0191 11 1 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.180+2333G>C - - Unknown g.140688522C>G - HARS_000003 rs702396 0.2015 101 18 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.180+2663T>C - - Unknown g.140688192A>G - HARS_000002 rs801186 0.2206 108 21 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.824-73C>A r.(=) p.(=) Unknown g.140677189G>T - HARS_000001 rs11954514 0.8765 62 266 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
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