Genomic variant #0000558926

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.70288560G>C
DNA change (hg38) -
Published as AARS(NM_001605.2):c.2364C>G (p.(Asn788Lys))
ISCN -
DB-ID AARS_000035
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
AARS NM_001605.2 -?/. - c.2364C>G likely benign r.(?) p.(Asn788Lys)
EXOSC6 NM_058219.2 -?/. - c.-2757C>G likely benign r.(?) p.(=)