Variant #0000091165 (NC_000020.10:g.17474721_17474722del, BFSP1(NM_001195.3):c.1620_1621del)

Individual ID 00060206
Chromosome 20
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.17474721_17474722del
DNA change (hg38) g.17494076_17494077del
Published as NM_001195.3:c. 1995_1996del (p.(*666Lysext*7))
ISCN -
DB-ID BFSP1_000001 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00285 View details
Owner Ivan Prokudin
Database submission license No license selected
Created by Ivan Prokudin
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BFSP1 NM_001195.3 -?/. - c.1620_1621del r.(?) p.(*666Lysext*7)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000060193 DNA SEQ;SEQ-NG-I - - BFSP1 1 Ivan Prokudin