All variants in the AARS gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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.2251A>G r.(?) p.(Arg751Gly) - likely pathogenic g.70289666T>C g.70255763T>C AARS(NM_001605.2):c.2251A>G (p.R751G) - AARS_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. - c.2251A>G r.(?) p.(Arg751Gly) - likely pathogenic g.70289666T>C g.70255763T>C - - AARS_000015 - - 190103 rs143370729 Germline - - - - - Fanny Kortüm
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