Variant #0000558942 (NC_000016.9:g.70301691T>C, NM_001605.2:c.1093A>G (AARS))
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.70301691T>C |
DNA change (hg38) |
g.70267788T>C |
Published as |
AARS(NM_001605.2):c.1093A>G (p.K365E) |
ISCN |
- |
DB-ID |
AARS_000045 |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
1.0E-5 View details |
Owner |
VKGL-NL_Rotterdam |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Rotterdam |
Date created |
2019-07-18 18:22:55 +02:00 (CEST) |
Date last edited |
2020-03-23 16:13:27 +01:00 (CET) |

Variant on transcripts
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