All variants in the AARS gene

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

9 entries on 1 page. Showing entries 1 - 9.
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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     
+/. 8 c.986G>A r.(?) p.(Arg329His) - pathogenic g.70302259C>T g.70268356C>T - - AARS_000001 - - - - Germline - - - 0 - Heather McLaughlin
+/. - c.986G>A r.(?) p.(Arg329His) - pathogenic g.70302259C>T g.70268356C>T - - AARS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.986G>A r.(?) p.Arg329His ACMG likely pathogenic g.70302259C>T g.70268356C>T - - AARS_000001 ACMG grading: PS3,PP1,PM2,PP5; reported in Latour P 2009. Am J Hum Genet 86: 77-82 - - rs267606621 Germline - - - 0 - Andreas Laner
+?/. - c.986G>A r.(?) p.(Arg329His) ACMG likely pathogenic g.70302259C>T g.70268356C>T - - AARS_000001 ACMG: PS3,PM2,PP1,PP5; Latour P et al. 2009. Am J Hum Genet 86: 77-82 - - rs267606621 Germline - - - 0 - Andreas Laner
+/. - c.986G>A r.(?) p.(Arg329His) - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Antoniadi 2015 - - Germline - - - 0 - Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Antoniadi 2015 - - Germline - - - 0 - Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Antoniadi 2015 - - Germline - - - 0 - Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Antoniadi 2015 - - Germline - - - 0 - Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Antoniadi 2015 - - Germline - - - 0 - Johan den Dunnen
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