All variants in the AARS gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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.1685C>T r.(?) p.(Thr562Ile) - benign g.70295047G>A g.70261144G>A AARS(NM_001605.2):c.1685C>T (p.T562I, p.(Thr562Ile)) - AARS_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1685C>T r.(?) p.(Thr562Ile) - likely benign g.70295047G>A g.70261144G>A AARS(NM_001605.2):c.1685C>T (p.T562I, p.(Thr562Ile)) - AARS_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1685C>T r.(?) p.(Thr562Ile) - likely benign g.70295047G>A g.70261144G>A AARS(NM_001605.2):c.1685C>T (p.T562I, p.(Thr562Ile)) - AARS_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1685C>T r.(?) p.(Thr562Ile) - likely benign g.70295047G>A g.70261144G>A AARS(NM_001605.2):c.1685C>T (p.T562I, p.(Thr562Ile)) - AARS_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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