LOVD - Variant listings for TNFRSF10A

About this overview [Show]

Patient data (#0000062)
Patient ID
Disease Lung cancer
Reference Ulybina et al., 2009
Template DNA
Technique PCR
Frequency -
Remarks 111 patients with lung cancer were sequenced for four different TRAIL-R1 variations. Polymorphism c.1322G>A was then sequenced for in a further 250 lung cancer patients. This polymorphism could be a modifier in patient risk to lung cancer.

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
External ID dbSNP
Exon 10
DNA change c.1322G>A   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Mutation effect Missense
Protein p.(Arg441Lys)
PolyPhen 2 Benign
Frequency -
DB-ID TNFRSF10A_00001

4 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 3 c.422A>G Substitution Missense p.(His141Arg) Possibly damaging - TNFRSF10A_00002
?/? 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
?/? Unknown dbSNP 10 c.1322G>A Substitution Missense p.(Arg441Lys) Benign - TNFRSF10A_00001