Variant #0000558940 (NC_000016.9:g.70299456C>T, AARS(NM_001605.2):c.1332G>A)

Chromosome 16
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.70299456C>T
DNA change (hg38) g.70265553C>T
Published as AARS(NM_001605.2):c.1332G>A (p.E444=)
ISCN -
DB-ID AARS_000017 See all 3 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) 0.00151 View details
Owner VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AARS NM_001605.2 -?/. - c.1332G>A r.(?) p.(Glu444=)