Variant #0000170288 (NC_000023.10:g.50653985C>T, BMP15(NM_005448.2):c.202C>T)
Individual ID |
00104566 |
Chromosome |
X |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.50653985C>T |
DNA change (hg38) |
g.50910985C>T |
Published as |
- |
ISCN |
- |
DB-ID |
BMP15_000001 See all 5 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Somatic |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00071 View details |
Owner |
Karine Poirier |
Database submission license |
No license selected |
Created by |
Karine Poirier |
Date created |
2017-05-15 12:33:41 +02:00 (CEST) |
Date last edited |
2017-05-15 16:54:10 +02:00 (CEST) |

Variant on transcripts
Screenings
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