LOVD - Variant listings for TNFRSF10A

About this overview [Show]

Patient data (#0000127)
Patient ID
Disease Colorectal cancer
Reference Frank et al., 2006
Template DNA
Technique PCR
Frequency -
Remarks 659 colorectal cancer patients were sequenced for these two variants. Variant 683G>C did not appear to be associated with an increased colorectal cancer risk. The 683C-626C haplotype conferred a 2.4 fold colorectal cancer risk.

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
External ID dbSNP
Exon 4
DNA change c.626G>C   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Mutation effect Missense
Protein p.(Arg209Thr)
PolyPhen 2 Benign
Frequency -
DB-ID TNFRSF10A_00003

2 entries in TNFRSF10A

Path.
Allele Descending
Ascending
External ID Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
Type Descending
Ascending
Mutation effect Descending
Ascending
Protein Descending
Ascending
PolyPhen 2 Descending
Ascending
Frequency Descending
Ascending
DB-ID Descending
Ascending
?/? Unknown dbSNP 4 c.626G>C Substitution Missense p.(Arg209Thr) Benign - TNFRSF10A_00003
?/? Unknown dbSNP 5 c.683A>C Substitution Missense p.(Glu228Ala) Possibly damaging - TNFRSF10A_00005