Variant #0000824274 (NC_000020.10:g.17477671G>C, BFSP1(NM_001195.3):c.957-3C>G)

Individual ID 00392270
Chromosome 20
Allele Paternal (confirmed)
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.17477671G>C
DNA change (hg38) g.17497026G>C
Published as BFSP1 c.957-3C>G, -
ISCN -
DB-ID BFSP1_000019 See all 2 reported entries
Variant remarks heterozygous, present in affected father
Reference PubMed: Bell 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-11-22 09:44:22 +01:00 (CET)
Date last edited 2021-11-22 09:46:47 +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.957-3C>G r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000393512 DNA SEQ-NG blood targeted next-generation sequencing BFSP1 1 LOVD