Variant #0000370552 (NC_000014.8:g.54416859C>G, NM_001202.3:c.1118G>C (BMP4))
| Individual ID |
00165243 |
| Chromosome |
14 |
| Allele |
Unknown |
| 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.54416859C>G |
| DNA change (hg38) |
g.53950141C>G |
| Published as |
g.8592G>C |
| ISCN |
- |
| DB-ID |
BMP4_000008 |
| Variant remarks |
not in 1048 control chromosomes |
| Reference |
PubMed: Lubbe 2011 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
1/504 cases |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Gerard C.P. Schaafsma |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Gerard C.P. Schaafsma |
| Date created |
2011-05-25 11:30:55 +02:00 (CEST) |
| Date last edited |
N/A |

Variant on transcripts
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