LOVD - Variant listings for FAS

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Patient data (#0000290)
Patient ID A72.1
Age at Phenodex -
Phenodex Summary -
Skin -
Eye -
Gastro -
Vascular -
Cardiac -
Ethnicity -
# Reported 1

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID FAS_05129
Variant c.801A>T
Prot. chge (classic notation) p.R187X
DNA change (HGVS) c.607A>T   (View in UCSC Genome Browser, Ensembl)
Protein change (HGVS notation) p.R203X
Exon 7
RNA change r.607A>T
Protein change (HGVS) X
mRNA Detected Present
Variant remarks stable mRNA; FADD recruitment 15% of normal; Caspase 8 recruitment 24% of normal [Kuehn HS et al J Immunol. 2011;186(10):6035-43]
Type Substitution
Mutation Source Germline
αβ-DNTs 10.6
IL-10 148
IL-18 1199
sFasL 1091
Vitamin  B12 20125
Apoptosis 26
FAS cell surface expression 112% of normal
CD20+CD27+/CD20+ 1.1
αβ-DNTs # 962
TNFa -

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_05129 c.801A>T p.R187X c.607A>T p.R203X 7 r.607A>T X Present stable mRNA; FADD recruitment 15% of normal; Caspase 8 recruitment 24% of normal [Kuehn HS et al J Immunol. 2011;186(10):6035-43] Substitution Germline 10.6 148 1199 1091 20125 26 112% of normal 1.1 962 -