All variants in the AARS gene

Information The variants shown are described using the NM_001605.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. - c.2459A>G r.(?) p.(Lys820Arg) - likely pathogenic g.70287883T>C g.70253980T>C g.70287883A>G - AARS_000034 - - - - Unknown - - - 0 - Carmen Espinós
-?/. - c.2459A>G r.(?) p.(Lys820Arg) - likely benign g.70287883T>C g.70253980T>C AARS(NM_001605.2):c.2459A>G (p.K820R) - AARS_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2459A>G r.(?) p.(Lys820Arg) - likely benign g.70287883T>C - AARS(NM_001605.2):c.2459A>G (p.K820R) - AARS_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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