LOVD - Variant listings for TNFRSF10A

About this overview [Show]

Patient data (#0000058)
Patient ID
Disease Bladder cancer
Reference Kim et al., 2000
Template DNA, RNA
Technique PCR, RT-PCR, SEQ
Frequency -
Remarks This variant appears to contribute to an increased resistance to TRAIL binding. This variant was also found in 2 normal samples (20%).

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

1 entry 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 10 c.1322G>A Substitution Missense p.(Arg441Lys) Benign - TNFRSF10A_00001