Genomic variant #0000248379

Chromosome 16
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.70287177A>G
DNA change (hg38) -
Published as AARS(NM_001605.2):c.2715T>C (p.V905=)
ISCN -
DB-ID AARS_000004 See all 4 reported entries
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) 0.84918 View details
Owner VKGL-NL_Groningen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
AARS NM_001605.2 -/. - c.2715T>C benign r.(?) p.(=)
EXOSC6 NM_058219.2 -/. - c.-1374T>C benign r.(?) p.(=)