Variant #0000821602 (NC_000014.8:g.21784106_21791536del, NM_020366.3:c.? (RPGRIP1))
| Individual ID |
00390401 |
| Chromosome |
14 |
| 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.21784106_21791536del |
| DNA change (hg38) |
- |
| Published as |
chr14:g.21784106_21791536del |
| ISCN |
- |
| DB-ID |
SERPINA1_000009 See all 83 reported entries |
| Variant remarks |
heterozygous |
| Reference |
PubMed: Turro 2020 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline/De novo (untested) |
| Segregation |
? |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2021-11-10 12:02:36 +01:00 (CET) |
| Date last edited |
2021-11-10 12:05:19 +01:00 (CET) |

Variant on transcripts
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