Genomic variant #0000558928

Chromosome 16
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.70289732G>A
DNA change (hg38) -
Published as AARS(NM_001605.2):c.2185C>T (p.R729W)
ISCN -
DB-ID AARS_000016 See all 2 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) 0.00054 View details
Owner VKGL-NL_AMC




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
AARS NM_001605.2 -?/. - c.2185C>T likely benign r.(?) p.(Arg729Trp)
EXOSC6 NM_058219.2 -?/. - c.-3929C>T likely benign r.(?) p.(=)