Variant #0000569135 (NC_000020.10:g.17474721_17474722del, BFSP1(NM_001195.3):c.1995_1996del)

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.17474721_17474722del
DNA change (hg38) g.17494076_17494077del
Published as BFSP1(NM_001195.4):c.1995_1996delTT (p.*666Kfs*8)
ISCN -
DB-ID BFSP1_000026 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) 0.00285 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2023-11-11 21:01:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BFSP1 NM_001195.3 ?/. - c.1995_1996del r.(?) p.(Ter666LysextTer7)