Variant #0000623514 (NC_000016.9:g.70289720G>A, AARS(NM_001605.2):c.2197C>T)

Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.70289720G>A
DNA change (hg38) g.70255817G>A
Published as AARS(NM_001605.2):c.2197C>T (p.H733Y)
ISCN -
DB-ID AARS_000054
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 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AARS NM_001605.2 ?/. - c.2197C>T r.(?) p.(His733Tyr)
EXOSC6 NM_058219.2 ?/. - c.-3917C>T r.(?) p.(=)