Variant #0000370530 (NC_000014.8:g.54418811C>A, NM_001202.3:c.130G>T (BMP4))
Individual ID |
00165221 |
Chromosome |
14 |
Allele |
Paternal (inferred) |
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 |
2018-07-02 17:16:57 +02:00 (CEST) |
Date last edited |
2018-07-03 16:07:59 +02:00 (CEST) |

Variant on transcripts
Screenings
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