Variant #0000795167 (NC_000003.11:g.133119040G>A, BFSP2(NM_003571.2):c.113G>A)

Individual ID 00380459
Chromosome 3
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.133119040G>A
DNA change (hg38) g.133400196G>A
Published as BFSP2(NM_003571.2):c.113G>A(p.S38N)
ISCN -
DB-ID BFSP2_000013
Variant remarks -
Reference PubMed: Sun 2018
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation ?
Frequency 154
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
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.113G>A r.(?) p.(Ser38Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000381672 DNA SEQ-NG-I blood - BFSP2 1 LOVD