Variant #0000259257 (NC_000003.11:g.133167363G>A, BFSP2(NM_003571.2):c.603=)

Chromosome 3
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.133167363G>A
DNA change (hg38) g.133448519G>A
Published as BFSP2(NM_003571.3):c.603G>A (p.A201=)
ISCN -
DB-ID BFSP2_000003
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.5399 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BFSP2 NM_003571.2 -/. - c.603= r.(=) p.(Ala201=)