Variant #0000324858 (NC_000016.9:g.70285400C>T, AARS(NM_001605.2):c.*1224G>A)
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>T |
DNA change (hg38) |
g.70251497C>T |
Published as |
EXOSC6(NM_058219.2):c.404G>A (p.(Arg135His)) |
ISCN |
- |
DB-ID |
EXOSC6_000001 |
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) |
0.0007 View details |
Owner |
VKGL-NL_Leiden |

Variant on transcripts
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