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.1019A>G r.(?) p.(Asn340Ser) - VUS g.70302226T>C g.70268323T>C AARS(NM_001605.2):c.1019A>G (p.N340S) - AARS_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.1019A>G r.(?) p.(Asn340Ser) - VUS g.70302226T>C g.70268323T>C AARS(NM_001605.2):c.1019A>G (p.N340S) - AARS_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.1019A>G r.(?) p.(Asn340Ser) - likely pathogenic (dominant) g.70302226T>C g.70268323T>C - - AARS_000018 - PubMed: Sevy 2016 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
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