Variant #0000764173 (NC_000019.9:g.6719320_6719321del, NM_000064.2:c.169_170del (C3))
| Individual ID |
00362255 |
| Chromosome |
19 |
| Allele |
Both (homozygous) |
| 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.6719320_6719321del |
| DNA change (hg38) |
g.6719309_6719310del |
| Published as |
168_169del |
| ISCN |
- |
| DB-ID |
C3_000137 |
| Variant remarks |
no functional evidence for this variation |
| Reference |
Journal: Jimenez- Reinoso 2018 |
| ClinVar ID |
ClinVar-VCV000599117.1 |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
yes |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Christian Drouet |
| Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
| Created by |
Christian Drouet |
| Date created |
2021-04-17 15:09:02 +02:00 (CEST) |
| Date last edited |
2022-01-24 09:36:34 +01:00 (CET) |

Variant on transcripts
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