LOVD - Variant listings for TNFRSF10B

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?/? 1 c.95C>T dbSNP Substitution Missense p.(Pro32Leu) Benign - TNFRSF10B_00003 - - - - - -
?/? 1 c.95C>T
    + c.200C>T, c.572T>C
dbSNP Substitution Missense p.(Pro32Leu) Benign - TNFRSF10B_00003 Colorectal cancer Arai et al., 1998 DNA, RNA PCR, RT-PCR, SSCA - In this study 41 cases were genotyped for variants. Two patients showed the 572T>C variant, one homozygous and one heterozygous. These variants may play a small role in colorectal tumorigenesis.
?/? 1 c.95C>T
    + c.200C>T, c.572T>C, c.1223C>T
dbSNP Substitution Missense p.(Pro32Leu) Benign - TNFRSF10B_00003 Hepatocellular carcinoma Jeng and Hsu, 2002 DNA PCR - These variants do not appear to be significantly associated with the carcinogenesis of hepatocellular carcinomas.
?/? 1 c.95C>T
    + c.200C>T, TNFRSF10A (1)
dbSNP Substitution Missense p.(Pro32Leu) Benign - TNFRSF10B_00003 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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Legend: [ TNFRSF10B 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. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. External ID: Link(s) to variation databases. 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. TNFRSF10B 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.