Variant #0000454538 (NC_000010.10:g.(82000001_87900000)_(99300001_101900000)del, NM_004329.2:c.0 (BMPR1A))
| Individual ID |
00218599 |
| Chromosome |
10 |
| Allele |
Unknown |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Affects function |
| Classification method |
ACMG |
| Clinical classification |
pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(82000001_87900000)_(99300001_101900000)del |
| DNA change (hg38) |
- |
| Published as |
46,XX,del(10)(q23.1q24.2) |
| ISCN |
- |
| DB-ID |
BMPR1A_000105 See all 5 reported entries |
| Variant remarks |
ACMG PVS1, PS2 82000001_101900000 |
| Reference |
PubMed: Zigman 1997 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
De novo |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Karl Heinimann |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2018-07-07 12:48:23 +02:00 (CEST) |
| Date last edited |
2020-06-10 17:01:06 +02:00 (CEST) |

Variant on transcripts
Screenings
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