Variant #0000896289 (NC_000023.10:g.50653964C>T, BMP15(NM_005448.2):c.181C>T)
Chromosome |
X |
Allele |
Unknown |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.50653964C>T |
DNA change (hg38) |
- |
Published as |
BMP15(NM_005448.2):c.181C>T (p.(Arg61Trp)) |
ISCN |
- |
DB-ID |
BMP15_000027 |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
6.0E-5 View details |
Owner |
VKGL-NL_Leiden |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Leiden |
Date created |
2022-11-01 13:41:49 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
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