Variant #0000866384 (NC_000020.10:g.17474778C>G, BFSP1(NM_001195.3):c.1939G>C)

Chromosome 20
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.17474778C>G
DNA change (hg38) -
Published as BFSP1(NM_001195.4):c.1939G>C (p.E647Q)
ISCN -
DB-ID BFSP1_000020
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) 0.00037 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2022-05-09 16:01:56 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BFSP1 NM_001195.3 ?/. - c.1939G>C r.(?) p.(Glu647Gln)