Variant #0000477900 (NC_000006.11:g.88239344del, NM_020320.3:c.795del (RARS2))
Individual ID |
00234052 |
Chromosome |
6 |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.88239344del |
DNA change (hg38) |
g.87529626del |
Published as |
795delA |
ISCN |
- |
DB-ID |
RARS2_000029 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Carolina Courage |
Database submission license |
No license selected |
Created by |
Carolina Courage |
Date created |
2019-05-04 20:05:02 +02:00 (CEST) |
Date last edited |
2020-06-19 15:22:51 +02:00 (CEST) |

Variant on transcripts
Screenings
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