Full data view for gene AARS

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.2459A>G r.(?) p.(Lys820Arg) Unknown - likely pathogenic g.70287883T>C g.70253980T>C g.70287883A>G - AARS_000034 - - - - Unknown - - - 0 - DNA SEQ Blood - CMT-2 ? - - - - Spain - - 0 - - 1 Carmen Espinós
-?/. - c.2459A>G r.(?) p.(Lys820Arg) Unknown - likely benign g.70287883T>C g.70253980T>C AARS(NM_001605.2):c.2459A>G (p.K820R) - AARS_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2459A>G r.(?) p.(Lys820Arg) Unknown - - g.70287883T>C - AARS(NM_001605.2):c.2459A>G (p.K820R) - AARS_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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