LOVD - Variant listings for TNFRSF10A

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?/? dbSNP 3 c.422A>G
    + c.626G>C, c.1322G>A
Substitution Missense p.(His141Arg) Possibly damaging - TNFRSF10A_00002 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 3 c.422A>G
    + c.626G>C, c.683A>C, c.1322G>A
Substitution Missense p.(His141Arg) Possibly damaging - TNFRSF10A_00002 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 3 c.422A>G
    + c.626G>C, c.1322G>A
Substitution Missense p.(His141Arg) Possibly damaging - TNFRSF10A_00002 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.
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Legend: [ TNFRSF10A full legend ]
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.