LOVD - Variant listings for TNFRSF10B

About this overview [Show]

Patient data (#0000030)
Patient ID
Disease -
Reference Pai et al., 1998
Template -
Technique -
Frequency -
Remarks This variant is associated with the loss of apoptotic function in head and neck cancer.

The variant was originally reported as NM_147187.2:c.1109T>C

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 9
DNA change c.1196T>C   (View in UCSC Genome Browser, Ensembl)
External ID -
Type Substitution
Mutation effect Missense
Protein p.(Val399Ala)
PolyPhen 2 -
Frequency -
DB-ID TNFRSF10B_00025

1 entry 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 9 c.1196T>C - Substitution Missense p.(Val399Ala) - - TNFRSF10B_00025