Genomic variant #0000558927

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.70289700G>A
DNA change (hg38) g.70255797G>A
Published as AARS(NM_001605.2):c.2217C>T (p.I739=)
ISCN -
DB-ID AARS_000036
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) Variant not found in online data sets
Owner VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AARS NM_001605.2 -?/. - c.2217C>T r.(?) p.(Ile739=)
EXOSC6 NM_058219.2 -?/. - c.-3897C>T r.(?) -