LOVD - Variant listings for TNFRSF10B

About this overview [Show]

Patient data (#0000051)
Patient ID
Disease Colorectal cancer
Reference Arai et al., 1998
Template DNA, RNA
Technique PCR, RT-PCR, SSCA
Frequency -
Remarks In this study 41 cases were genotyped for variants. Two patients showed the 572T>C variant, one homozygous and one heterozygous. These variants may play a small role in colorectal tumorigenesis.

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 5
DNA change c.572T>C   (View in UCSC Genome Browser, Ensembl)
External ID dbSNP
Type Substitution
Mutation effect Missense
Protein p.(Val191Ala)
PolyPhen 2 Benign
Frequency -
DB-ID TNFRSF10B_00011

3 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
?/? Unknown 5 c.572T>C dbSNP Substitution Missense p.(Val191Ala) Benign - TNFRSF10B_00011