Variant #0000650729 (NC_000020.10:g.17479609A>G, BFSP1(NM_001195.3):c.812T>C)
Individual ID |
00292872 |
Chromosome |
20 |
Allele |
Parent #1 |
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.17479609A>G |
DNA change (hg38) |
g.17498964A>G |
Published as |
- |
ISCN |
- |
DB-ID |
BFSP1_000007 See all 2 reported entries |
Variant remarks |
no interpretation available; 2 heterozygous, no homozygous; Clinindb (India) |
Reference |
PubMed: Narang 2020, Journal: Narang 2020 |
ClinVar ID |
- |
dbSNP ID |
rs147718368 |
Origin |
Germline |
Segregation |
- |
Frequency |
2/2794 individuals |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00041 View details |
Owner |
Mohammed Faruq |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2020-03-11 19:46:11 +01:00 (CET) |
Date last edited |
2020-11-11 19:56:39 +01:00 (CET) |

Variant on transcripts
Screenings
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