LOVD - Variant listings for FAS

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Patient data (#0000357)
Patient ID A242.1
Age at Phenodex -
Phenodex Summary -
Skin -
Eye -
Gastro -
Vascular -
Cardiac -
Ethnicity -
# Reported 1

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
DB-ID FAS_05196
Variant c.535A>T
Prot. chge (classic notation) p.0
DNA change (HGVS) c.341A>T   (View in UCSC Genome Browser, Ensembl)
Protein change (HGVS notation) p.0
Exon 4
RNA change spl
Protein change (HGVS) p.0?
mRNA Detected Absent
Variant remarks splice mutation, unstable mRNA (Amy P. Hsu unpublished data)
Type Substitution
Mutation Source Germline
αβ-DNTs 47.3
IL-10 400
IL-18 -
sFasL 2163
Vitamin  B12 4000
Apoptosis -
FAS cell surface expression -
CD20+CD27+/CD20+ 0.4
αβ-DNTs # 2781
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_05196 c.535A>T p.0 c.341A>T p.0 4 spl p.0? Absent splice mutation, unstable mRNA (Amy P. Hsu unpublished data) Substitution Germline 47.3 400 - 2163 4000 - - 0.4 2781 -