LOVD - Variant listings for TNFRSF10A

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?/? dbSNP 10 c.1322G>A Substitution Missense p.(Arg441Lys) Benign - TNFRSF10A_00001 Ovarian cancer Kim et al., 2000 DNA, RNA PCR, RT-PCR, SEQ, Western - 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.
?/? dbSNP 10 c.1322G>A Substitution Missense p.(Arg441Lys) Benign - TNFRSF10A_00001 Bladder cancer Kim et al., 2000 DNA, RNA PCR, RT-PCR, SEQ - This variant appears to contribute to an increased resistance to TRAIL binding. This variant was also found in 2 normal samples (20%).
?/? dbSNP 10 c.1322G>A
    + c.422A>G, c.626G>C
Substitution Missense p.(Arg441Lys) Benign - TNFRSF10A_00001 Lung cancer and Head and Neck Cancer Fisher et al., 2001 DNA DGGE, PCR - A number of samples from four different cancer types were sequenced for these polymorphisms. Variants 626G>C and 422A>G may be associated with an increase in predisposition to cancer types.
?/? dbSNP 10 c.1322G>A
    + c.422A>G, c.626G>C, c.683A>C
Substitution Missense p.(Arg441Lys) Benign - TNFRSF10A_00001 Lung cancer Ulybina et al., 2009 DNA PCR - 111 patients with lung cancer were sequenced for four different TRAIL-R1 variations. Polymorphism c.1322G>A was then sequenced for in a further 250 lung cancer patients. This polymorphism could be a modifier in patient risk to lung cancer.
?/? dbSNP 10 c.1322G>A
    + c.422A>G, c.626G>C
Substitution Missense p.(Arg441Lys) Benign - TNFRSF10A_00001 Ovarian cancer Horak et al., 2005 DNA PCR - 97 ovarian cancer samples were investigated along with controls. In all three polymorphisms no significant difference could be found between the normal and disease samples.
?/? dbSNP 10 c.1322G>A
    + c.626G>C, c.683A>C
Substitution Missense p.(Arg441Lys) Benign - TNFRSF10A_00001 - Chen et al., 2009 - - - This paper was an evidence based meta-analysis looking at a total of nine studies. Overall, all three polymorphisms were found to be associated with cancer risk.
?/? dbSNP 10 c.1322G>A
    + TNFRSF10B (2)
Substitution Missense p.(Arg441Lys) Benign - TNFRSF10A_00001 Breast cancer Seitz et al., 2002 DNA, RNA PCR, RT-PCR, SSCA - 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.
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Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. External ID: Link(s) to variation databases. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Type: Type of variant at DNA level. Mutation effect: Mutation effect at protein or RNA level. Protein: Variation at protein level. PolyPhen 2: PolyPhen 2 prediction of variant effect Frequency: Frequency if variant is non pathogenic. TNFRSF10A DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Patient ID: Internal reference to the patient. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the patient, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Frequency: Frequency of polymorphism.