Variant #0000801004 (NC_000003.11:g.133119417del, BFSP2(NM_003571.2):c.489+1del)

Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.133119417del
DNA change (hg38) -
Published as BFSP2(NM_003571.3):c.489delG (p.V164Wfs*55)
ISCN -
DB-ID BFSP2_000014
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) Variant not found in online data sets
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BFSP2 NM_003571.2 +/. - c.489+1del r.spl? p.?
TMEM108 NM_023943.2 +/. - c.*4587del r.(?) p.(=)