LOVD - Variant listings for TNFRSF10D

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?/? 1 NHLBI Exome Sequencing Project c.50C>A Substitution Missense p.(Gly17Val) Probably damaging A=1/C=10755 TNFRSF10D_00019 - - - - - -
?/? 1 dbSNP c.52G>A Substitution Missense p.(Arg18Cys) Probably damaging - TNFRSF10D_00018 - - - - - -
?/? 1 1000 Genomes c.68G>T Substitution Missense p.(Arg23Met) Probably damaging - TNFRSF10D_00022 - - - - - -
?/? 1 dbSNP c.103C>T Substitution Missense p.(Pro35Ser) Possibly damaging T=0.849/C=0.151 TNFRSF10D_00017 - - - - - -
?/? 2 dbSNP c.163A>G Substitution Missense p.(Ser55Pro) Probably damaging - TNFRSF10D_00016 - - - - - -
?/? 2 1000 Genomes c.186C>G Substitution Missense p.(Asp62Glu) Possibly damaging - TNFRSF10D_00021 - - - - - -
?/? 2 NHLBI Exome Sequencing Project c.187C>T Substitution Missense p.(Glu63Lys) Probably damaging C=1/T=10757 TNFRSF10D_00015 - - - - - -
?/? 4 NHLBI Exome Sequencing Project c.410G>A Substitution Missense p.(Thr137Ile) Probably damaging G=1/A=10757 TNFRSF10D_00014 - - - - - -
?/? 4 NHLBI Exome Sequencing Project c.431C>A Substitution Missense p.(Gly144Val) Probably damaging A=2/C=10756 TNFRSF10D_00013 - - - - - -
?/? 4 dbSNP c.470G>A Substitution Missense p.(Thr157Met) Possibly damaging G=0.999/A=0.001 TNFRSF10D_00012 - - - - - -
?/? 5 dbSNP c.553C>A Substitution Missense p.(Ala185Ser) Possibly damaging C=0.997/A=0.003 TNFRSF10D_00011 - - - - - -
?/? 5 dbSNP c.596T>C Substitution Missense p.(Val199Ala) Probably damaging T=0.986/C=0.014 TNFRSF10D_00010 - - - - - -
?/? 5 dbSNP c.625G>T Substitution Missense p.(Pro209Thr) Possibly damaging C=0.984/T=0.016 TNFRSF10D_00009 - - - - - -
?/? 7 dbSNP c.872G>C Substitution Missense p.(Ser291Cys) Probably damaging G=0.989/C=0.011 TNFRSF10D_00008 - - - - - -
?/? 7 NHLBI Exome Sequencing Project c.902C>G Substitution Missense p.(Ala301Gly) Probably damaging C=1/G=10757 TNFRSF10D_00007 - - - - - -
?/? 7 dbSNP c.929G>A Substitution Missense p.(Leu310Ser) Probably damaging G=0.584/A=0.416 TNFRSF10D_00006 - - - - - -
?/? 9 dbSNP c.1033A>C Substitution Missense p.(Thr345Pro) Probably damaging A=0.964/C=0.036 TNFRSF10D_00005 - - - - - -
?/? 9 NHLBI Exome Sequencing Project c.1060C>A Substitution Missense p.(Glu354*) Not determined A=1/C=10757 TNFRSF10D_00004 - - - - - -
?/? 9 dbSNP c.1082A>G Substitution Missense p.(Thr361Ile) Probably damaging - TNFRSF10D_00003 - - - - - -
?/? 9 dbSNP c.1108C>T Substitution Missense p.(Glu370Lys) Possibly damaging - TNFRSF10D_00002 - - - - - -
- 9 NHLBI Exome Sequencing Project c.1139G>T Substitution Missense p.(Gly380Val) Probably damaging A=1/C=10757 TNFRSF10D_00001 - - - - - -
?/? 9 1000 Genomes c.1154G>A Substitution Missense p.(Cys385Tyr) Possibly damaging - TNFRSF10D_00020 - - - - - -
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Legend: [ TNFRSF10D 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. External ID: Link(s) to variation databases. 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. TNFRSF10D 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.