Variant #0000359657 (NC_000014.8:g.54418811C>A, NM_001202.3:c.130G>T (BMP4))
| Individual ID |
00155750 |
| Chromosome |
14 |
| 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.54418811C>A |
| DNA change (hg38) |
g.53952093C>A |
| Published as |
- |
| ISCN |
- |
| DB-ID |
BMP4_000034 See all 5 reported entries |
| Variant remarks |
- |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
yes |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Thomas Nixon |
| Database submission license |
No license selected |
| Created by |
Thomas Nixon |
| Date created |
2018-03-29 13:53:13 +02:00 (CEST) |
| Date last edited |
2018-07-03 12:09:05 +02:00 (CEST) |

Variant on transcripts
Screenings
|