All variants in the AARS gene

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

5 entries on 1 page. Showing entries 1 - 5.
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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.700C>T r.(?) p.(Pro234Ser) - VUS g.70304215G>A g.70270312G>A AARS(NM_001605.2):c.700C>T (p.P234S) - AARS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.700C>T r.(?) p.(Pro234Ser) - likely benign g.70304215G>A g.70270312G>A AARS(NM_001605.2):c.700C>T (p.P234S) - AARS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.700C>T r.(?) p.(Pro234Ser) - VUS g.70304215G>A g.70270312G>A AARS(NM_001605.2):c.700C>T (p.P234S) - AARS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.700C>T r.(?) p.(Pro234Ser) - VUS g.70304215G>A g.70270312G>A - - AARS_000020 conflicting interpretations of pathogenicity; 20 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141840552 Germline - 20/2795 individuals - 0 - Mohammed Faruq
?/. - c.700C>T r.(?) p.(Pro234Ser) - VUS g.70304215G>A g.70270312G>A - - AARS_000020 conflicting interpretations of pathogenicity; 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141840552 Germline - 1/2795 individuals - 0 - Mohammed Faruq
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