Genomic variant #0000260415

Chromosome 16
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.70289666T>C
DNA change (hg38) -
Published as AARS(NM_001605.2):c.2251A>G (p.R751G)
ISCN -
DB-ID AARS_000015
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
AARS NM_001605.2 +?/. - c.2251A>G likely pathogenic r.(?) p.(Arg751Gly)
EXOSC6 NM_058219.2 +?/. - c.-3863A>G likely pathogenic r.(?) p.(=)