Variant #0000558933 (NC_000016.9:g.70295047G>A, AARS(NM_001605.2):c.1685C>T)

Chromosome 16
Allele Unknown
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.70295047G>A
DNA change (hg38) g.70261144G>A
Published as AARS(NM_001605.2):c.1685C>T (p.T562I, p.(Thr562Ile))
ISCN -
DB-ID AARS_000040 See all 4 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00527 View details
Owner VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AARS NM_001605.2 -/. - c.1685C>T r.(?) p.(Thr562Ile)