LOVD - Variant listings for FAS

About this overview [Show]

Patient data (#0000296)
Patient ID A84.1
Age at Phenodex -
Phenodex Summary -
Skin -
Eye -
Gastro -
Vascular -
Cardiac -
Ethnicity -
# Reported 1

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
DB-ID FAS_05135
Variant c.846-9_847del 11
Prot. chge (classic notation) p.E202MfsX4
DNA change (HGVS) c.652-9_653del11   (View in UCSC Genome Browser, Ensembl)
Protein change (HGVS notation) p.E218MfsX4
Exon Intron 7
RNA change -
Protein change (HGVS) -
mRNA Detected -
Variant remarks -
Type Deletion
Mutation Source Somatic
αβ-DNTs -
IL-10 103
IL-18 1400
sFasL 1571
Vitamin  B12 1541
Apoptosis -
FAS cell surface expression -
CD20+CD27+/CD20+ -
αβ-DNTs # -
TNFa 9

1 entry in FAS

Path.
Allele Descending
Ascending
DB-ID Descending
Ascending
Variant Descending
Ascending
Prot. chge (classic notation) Descending
Ascending
DNA change (HGVS) Descending
Ascending
Protein change (HGVS notation) Descending
Ascending
Exon Descending
Ascending
RNA change Descending
Ascending
Protein change (HGVS) Descending
Ascending
mRNA Detected Descending
Ascending
Variant remarks Descending
Ascending
Type Descending
Ascending
Mutation Source Descending
Ascending
αβ-DNTs Descending
Ascending
IL-10 Descending
Ascending
IL-18 Descending
Ascending
sFasL Descending
Ascending
Vitamin  B12 Descending
Ascending
Apoptosis Descending
Ascending
FAS cell surface expression Descending
Ascending
CD20+CD27+/CD20+ Descending
Ascending
αβ-DNTs # Descending
Ascending
TNFa Descending
Ascending
?/? Unknown FAS_05135 c.846-9_847del 11 p.E202MfsX4 c.652-9_653del11 p.E218MfsX4 Intron 7 - - - - Deletion Somatic - 103 1400 1571 1541 - - - - 9