Variant #0000078924 (NC_000016.9:g.70287883T>C, AARS(NM_001605.2):c.2459A>G)

Individual ID 00050079
Chromosome 16
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.70287883T>C
DNA change (hg38) g.70253980T>C
Published as g.70287883A>G
ISCN -
DB-ID AARS_000034 See all 3 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00171 View details
Owner Carmen Espinós
Database submission license No license selected
Created by Carmen Espinós
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AARS NM_001605.2 +?/. - c.2459A>G r.(?) p.(Lys820Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050005 DNA SEQ Blood - AARS 1 Carmen Espinós