All variants in the AARS gene

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

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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.2063A>G r.(?) p.(Glu688Gly) - likely pathogenic (dominant) g.70292050T>C g.70258147T>C - - AARS_000059 AD, segregates with disease PubMed: Antoniadi 2015 - - Germline - - - 0 - Johan den Dunnen
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