LOVD - Variant listings for FAS

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Patient data (#0000337)
Patient ID A200.1
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_05176
Variant c.845+1G>A
Prot. chge (classic notation) p.V174GfsX9
DNA change (HGVS) c.651+1G>A   (View in UCSC Genome Browser, Ensembl)
Protein change (HGVS notation) p.V190GfsX9
Exon Intron 7
RNA change -
Protein change (HGVS) -
mRNA Detected -
Variant remarks -
Type Substitution
Mutation Source Germline
αβ-DNTs 7.2
IL-10 100
IL-18 953
sFasL 1692
Vitamin  B12 -
Apoptosis -
FAS cell surface expression -
CD20+CD27+/CD20+ -
αβ-DNTs # 136
TNFa 76

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_05176 c.845+1G>A p.V174GfsX9 c.651+1G>A p.V190GfsX9 Intron 7 - - - - Substitution Germline 7.2 100 953 1692 - - - - 136 76