Variant #0000824309 (NC_000020.10:g.17477671G>C, BFSP1(NM_001195.3):c.957-3C>G)
Individual ID |
00392297 |
Chromosome |
20 |
Allele |
Paternal (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.17477671G>C |
DNA change (hg38) |
g.17497026G>C |
Published as |
BFSP1 c.957-3C>G, - |
ISCN |
- |
DB-ID |
BFSP1_000019 See all 2 reported entries |
Variant remarks |
heterozygous, present in affected father |
Reference |
PubMed: Bell 2021 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2021-11-22 12:45:22 +01:00 (CET) |
Date last edited |
2021-11-22 12:45:35 +01:00 (CET) |

Variant on transcripts
Screenings
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