LOVD - Variant listings for TNFRSF10A

About this overview [Show]

Patient data (#0000057)
Patient ID
Disease Ovarian cancer
Reference Kim et al., 2000
Template DNA, RNA
Technique PCR, RT-PCR, SEQ, Western
Frequency -
Remarks This variant appears to contribute to an increased resistance to TRAIL binding. All ovarian cancer cell samples tested in this instance were heterozygous for this variant. This variant was also found in 2 normal samples (20%), again heterozygous.

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