Genomic variant #0000324859

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.70285400C>G
DNA change (hg38) g.70251497C>G
Published as EXOSC6(NM_058219.2):c.404G>C (p.(Arg135Pro))
ISCN -
DB-ID EXOSC6_000002
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) Variant not found in online data sets
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AARS NM_001605.2 ?/. - c.*1224G>C r.(=) p.(=)
EXOSC6 NM_058219.2 ?/. - c.404G>C r.(?) p.(Arg135Pro)