Variant #0001045592 (NC_000001.10:g.152287839C>A, NM_002016.1:c.94G>T (FLG))

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.152287839C>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID FLG_000351 See all 2 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) 0.00014 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2025-07-08 13:22:38 +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     
FLG2 NM_001014342.2 +/. - c.*35247G>T r.(=) p.(=)
FLG NM_002016.1 +/. - c.94G>T r.(?) p.(Glu32*)


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