Variant #0000061786 (NC_000016.9:g.70298949G>A, AARS(NM_001605.2):c.1404C>T)

Individual ID 00034597
Chromosome 16
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.70298949G>A
DNA change (hg38) g.70265046G>A
Published as -
ISCN -
DB-ID AARS_000007 See all 2 reported entries
Variant remarks no impact on AS or splicing
Reference -
ClinVar ID -
dbSNP ID rs117598688
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00916 View details
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AARS NM_001605.2 -/. - c.1404C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000034667 DNA SEQ - - AARS 1 Andreas Laner