LOVD - Variant listings for FAS

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Patient data (#0000267)
Patient ID A6.1
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_05105
Variant c.964C>A
Prot. chge (classic notation) p.A241D
DNA change (HGVS) c.770C>A   (View in UCSC Genome Browser, Ensembl)
Protein change (HGVS notation) p.A257D
Exon 9
RNA change r.770C>A
Protein change (HGVS) p.A257D
mRNA Detected Present
Variant remarks -
Type Substitution
Mutation Source Germline
αβ-DNTs 18.7
IL-10 227
IL-18 2361
sFasL 3107
Vitamin  B12 10428
Apoptosis 1
FAS cell surface expression -
CD20+CD27+/CD20+ 0.7
αβ-DNTs # 627
TNFa 10

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_05105 c.964C>A p.A241D c.770C>A p.A257D 9 r.770C>A p.A257D Present - Substitution Germline 18.7 227 2361 3107 10428 1 - 0.7 627 10