LOVD - Variant listings for FAS

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Patient data (#0000282)
Patient ID A54.1
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_05120
Variant c.240_241delGC
Prot. chge (classic notation) p.A(-1)X
DNA change (HGVS) c.46_47delGC   (View in UCSC Genome Browser, Ensembl)
Protein change (HGVS notation) p.A16X
Exon 2
RNA change r.0?
Protein change (HGVS) p.0?
mRNA Detected -
Variant remarks -
Type Deletion
Mutation Source Germline
αβ-DNTs 5.5
IL-10 173
IL-18 -
sFasL 1668
Vitamin  B12 164
Apoptosis -
FAS cell surface expression -
CD20+CD27+/CD20+ -
αβ-DNTs # 106
TNFa 7

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_05120 c.240_241delGC p.A(-1)X c.46_47delGC p.A16X 2 r.0? p.0? - - Deletion Germline 5.5 173 - 1668 164 - - - 106 7