Variant #0000454544 (NC_000010.10:g.(?_88516396)_(88684945_?)del, NM_004329.2:c.(?_-548)_(*1469_?)del (BMPR1A))
Individual ID |
00218605 |
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.(?_88516396)_(88684945_?)del |
DNA change (hg38) |
- |
Published as |
del(10)(q.22.3q.24.1) |
ISCN |
- |
DB-ID |
BMPR1A_000111 See all 16 reported entries |
Variant remarks |
ACMG PVS1, PM2 |
Reference |
Jacoby 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 |
2025-03-01 09:31:57 +01:00 (CET) |

Variant on transcripts
Screenings
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