Variant #0000263691 (NC_000003.11:g.133191346G>A, BFSP2(NM_003571.2):c.1181G>A)

Chromosome 3
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.133191346G>A
DNA change (hg38) g.133472502G>A
Published as BFSP2(NM_003571.3):c.1181G>A (p.R394H)
ISCN -
DB-ID BFSP2_000004
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) 4.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BFSP2 NM_003571.2 -?/. - c.1181G>A r.(?) p.(Arg394His)