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.2791G>A r.(?) p.(Gly931Ser) - benign g.70286740C>T g.70252837C>T AARS(NM_001605.2):c.2791G>A (p.G931S) - AARS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.2791G>A r.(?) p.(Gly931Ser) - likely benign g.70286740C>T g.70252837C>T AARS(NM_001605.2):c.2791G>A (p.G931S) - AARS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.2791G>A r.(?) p.(Gly931Ser) - likely benign g.70286740C>T g.70252837C>T - - AARS_000013 11 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs149377346 Germline - 11/2795 individuals - 0 - Mohammed Faruq
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