Variant #0000260415 (NC_000016.9:g.70289666T>C, AARS(NM_001605.2):c.2251A>G)
Chromosome |
16 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.70289666T>C |
DNA change (hg38) |
g.70255763T>C |
Published as |
AARS(NM_001605.2):c.2251A>G (p.R751G) |
ISCN |
- |
DB-ID |
AARS_000015 See all 2 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) |
4.0E-5 View details |
Owner |
VKGL-NL_Utrecht |

Variant on transcripts
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