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
Screenings
|