Variant #0000451424 (NC_000023.10:g.153607932_153607933insCG, NC_000023.10(NM_000117.2):c.82+6_82+7insCG (EMD))
| Individual ID |
00216130 |
| Chromosome |
X |
| Allele |
Maternal (confirmed) |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.153607932_153607933insCG |
| DNA change (hg38) |
g.154379572_154379573insCG |
| Published as |
- |
| ISCN |
- |
| DB-ID |
EMD_000063 |
| Variant remarks |
- |
| Reference |
PubMed: Bione |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2004-11-22 19:11:06 +01:00 (CET) |
| Date last edited |
2019-01-20 16:34:15 +01:00 (CET) |

Variant on transcripts
Screenings
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