Variant #0000812647 (NC_000023.10:g.18690163A>T, NM_000330.3:c.26T>A (RS1))
| Individual ID |
00384337 |
| Chromosome |
X |
| 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.18690163A>T |
| DNA change (hg38) |
g.18672043A>T |
| Published as |
c.26A>T, p.(Leu9*) |
| ISCN |
- |
| DB-ID |
RS1_000296 |
| Variant remarks |
error in annotation: c.26A>T instead of T>A, hemizygous |
| Reference |
PubMed: Wang 2019 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| 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 |
2021-09-29 13:19:55 +02:00 (CEST) |
| Date last edited |
2021-12-10 17:09:09 +01:00 (CET) |

Variant on transcripts
Screenings
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