Variant #0000716857 (NC_000001.10:g.152285315G>A, NM_002016.1:c.2047C>T (FLG))

Chromosome 1
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.152285315G>A
DNA change (hg38) -
Published as FLG(NM_002016.1):c.2047C>T (p.R683C)
ISCN -
DB-ID FLG_000473
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) 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
Date created 2021-02-08 18:36:18 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FLG2 NM_001014342.2 ?/. - c.*37771C>T r.(=) p.(=)
FLG NM_002016.1 ?/. - c.2047C>T r.(?) p.(Arg683Cys)


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