Variant #0000256042 (NC_000020.10:g.17479609A>G, BFSP1(NM_001195.3):c.812T>C)
Chromosome |
20 |
Allele |
Unknown |
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 |
BFSP1(NM_001195.4):c.812T>C (p.I271T) |
ISCN |
- |
DB-ID |
BFSP1_000007 See all 2 reported entries |
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) |
0.00041 View details |
Owner |
VKGL-NL_Rotterdam |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Rotterdam |
Date created |
2018-01-15 20:58:59 +01:00 (CET) |
Date last edited |
2021-02-08 18:36:18 +01:00 (CET) |

Variant on transcripts
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