Variant #0000814451 (NC_000003.11:g.133167457_133167459del, BFSP2(NM_003571.2):c.697_699del)

Individual ID 00385542
Chromosome 3
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.133167457_133167459del
DNA change (hg38) g.133448613_133448615del
Published as BFSP2 c.697_699del p.(Glu233del) het
ISCN -
DB-ID BFSP2_000001 See all 3 reported entries
Variant remarks heterozygous
Reference PubMed: Lenassi 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BFSP2 NM_003571.2 +?/. - c.697_699del r.(?) p.(Glu233del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000386771 DNA SEQ-NG blood 144 genes panel tested BFSP2 1 LOVD