Variant #0000569138 (NC_000020.10:g.17474968T>C, BFSP1(NM_001195.3):c.1749A>G)

Chromosome 20
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.17474968T>C
DNA change (hg38) g.17494323T>C
Published as BFSP1(NM_001195.5):c.1749A>G (p.P583=)
ISCN -
DB-ID BFSP1_000010 See all 3 reported entries
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) 0.73106 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BFSP1 NM_001195.3 -/. - c.1749A>G r.(?) p.(Pro583=)