LOVD - Variant listings for TNFRSF10B

About this overview [Show]

Patient data (#0000139)
Patient ID
Disease Breast cancer
Reference Seitz et al., 2002
Template DNA, RNA
Technique PCR, RT-PCR, SSCA
Frequency -
Remarks In this study variants in TRAIL and the four TRAIL receptor genes were investigated for in 115 tumour samples and 40 controls. Decreased mRNA expressionof these genes in breast cancer cells appear to be due to another mechanism of gene expression than the variants listed.

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 2
DNA change c.200C>T   (View in UCSC Genome Browser, Ensembl)
External ID dbSNP
Type Substitution
Mutation effect Missense
Protein p.(Ala67Val)
PolyPhen 2 Possibly damaging
Frequency -
DB-ID TNFRSF10B_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

2 entries in TNFRSF10B

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
External ID Descending
Ascending
Type Descending
Ascending
Mutation effect Descending
Ascending
Protein Descending
Ascending
PolyPhen 2 Descending
Ascending
Frequency Descending
Ascending
DB-ID Descending
Ascending
?/? Unknown 1 c.95C>T dbSNP Substitution Missense p.(Pro32Leu) Benign - TNFRSF10B_00003
?/? Unknown 2 c.200C>T dbSNP Substitution Missense p.(Ala67Val) Possibly damaging - TNFRSF10B_00001