LOVD - Variant listings for TNFRSF10A

About this overview [Show]

Patient data (#0000132)
Patient ID 11
Disease Breast cancer
Reference Shin et al., 2002
Template DNA
Technique PCR, SSCA
Frequency -
Remarks This variant was found only in the metastatic breast cancer sample. Transfection of this mutation into 293 other cells showed significant defects in apoptotic function.

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
External ID -
Exon 10
DNA change c.1205C>T   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Mutation effect Missense
Protein p.(Ala402Val)
PolyPhen 2 Not determined
Frequency -
DB-ID TNFRSF10A_00056

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 - 10 c.1205C>T Substitution Missense p.(Ala402Val) Not determined - TNFRSF10A_00056