Full data view for gene FLG

Information The variants shown are described using the NM_002016.1 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 3 c.1501C>T r.(?) p.(Arg501*) Both (homozygous) - pathogenic g.152285861G>A g.152313385G>A R501X - FLG_000004 - PubMed: Smith 2006 ClinVar-RCV000678332.1 rs61816761 Germline yes 0.009386 NlaIII+ - - DNA RFLP, SEQ - - ichthyosis vulgaris - PubMed: Smith 2006 Frequent mutation in the European population - - United Kingdom (Great Britain) - - - - - 1 Michel van Geel
./. - c.1501C>T r.(?) p.(Arg501*) Both (homozygous) - pathogenic g.152285861G>A g.152313385G>A - - FLG_000004 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 proband - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
./. - c.1501C>T r.(?) p.(Arg501*) Parent #2 - pathogenic g.152285861G>A g.152313385G>A - - FLG_000004 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 proband - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
./. - c.1501C>T r.(?) p.(Arg501*) Parent #2 - pathogenic g.152285861G>A g.152313385G>A - - FLG_000004 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 uninherited diplotypes - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.1501C>T r.(?) p.(Arg501Ter) Unknown - pathogenic g.152285861G>A g.152313385G>A FLG(NM_002016.1):c.1501C>T (p.R501*), FLG(NM_002016.2):c.1501C>T (p.(Arg501Ter), p.R501*) - FLG_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1501C>T r.(?) p.(Arg501Ter) Unknown - pathogenic g.152285861G>A g.152313385G>A FLG(NM_002016.1):c.1501C>T (p.R501*), FLG(NM_002016.2):c.1501C>T (p.(Arg501Ter), p.R501*) - FLG_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1501C>T r.(?) p.(Arg501Ter) Unknown - pathogenic g.152285861G>A g.152313385G>A FLG(NM_002016.1):c.1501C>T (p.R501*), FLG(NM_002016.2):c.1501C>T (p.(Arg501Ter), p.R501*) - FLG_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1501C>T r.(?) p.(Arg501Ter) Unknown - pathogenic g.152285861G>A g.152313385G>A FLG(NM_002016.1):c.1501C>T (p.R501*), FLG(NM_002016.2):c.1501C>T (p.(Arg501Ter), p.R501*) - FLG_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1501C>T r.(?) p.(Arg501Ter) Unknown - pathogenic g.152285861G>A - FLG(NM_002016.1):c.1501C>T (p.R501*), FLG(NM_002016.2):c.1501C>T (p.(Arg501Ter), p.R501*) - FLG_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1501C>T r.(?) p.(Arg501Ter) Parent #1 - likely pathogenic (recessive) g.152285861G>A g.152313385G>A - - FLG_000004 ACMG PVS1, PP5 PubMed: Schuermans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat28 PubMed: Schuermans 2022 analysis 329 adult patients suffering from undiagnosed rare disease M - Belgium - - - - - 1 Johan den Dunnen
+/. - c.1501C>T r.(?) p.(Arg501*) Maternal (confirmed) - pathogenic (!) g.152285861G>A g.152313385G>A - - FLG_000004 variant associated with dermatities showing incomplete penetrance and variable expressivity - - - Germline - - - - - DNA SEQ, SEQ-NG - WES ATOD, ECTD, WITKOS patient PubMed: Ferrer 2019 3-generation family, 1 triple affected F - United States - - - - - 1 Johan den Dunnen
+?/. - c.1501C>T r.(?) p.(Arg501*) Unknown - VUS g.152285861G>A - - - FLG_000004 candidate variant in IEI panel PubMed: van der Made 2024, Journal: van der Made 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - trio WES SCID Pat1 PubMed: van der Made 2024, Journal: van der Made 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - Europe - - - - 1 Johan den Dunnen
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