LOVD - Variant listings for TNFRSF10C

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11 entries
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Exon Hide Exon column Descending
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External ID Hide External ID column Descending
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DNA change   Descending
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Type Hide Type column Descending
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Mutation effect Hide Mutation effect column Descending
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Protein Hide Protein column Descending
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PolyPhen 2 Hide PolyPhen 2 column Descending
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Frequency Hide Frequency column Descending
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DB-ID Hide DB-ID column Descending
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1 dbSNP c.20C>T Substitution Missense p.(Thr7Ile) Possibly damaging C=0.957/T=0.043 TNFRSF10C_00001
1 1000 Genomes c.26A>G Substitution Missense p.(Lys9Arg) Possibly damaging - TNFRSF10C_00010
1 dbSNP c.43G>T Substitution Missense p.(Val15Phe) Probably damaging G=0.998/T=0.002 TNFRSF10C_00002
3 dbSNP c.172C>G Substitution Missense p.(His58Asp) Probably damaging C=0.999/G=0.001 TNFRSF10C_00003
3 dbSNP c.191C>G Substitution Missense p.(His58Asp) Probably damaging - TNFRSF10C_00004
3 dbSNP c.217G>A Substitution Missense p.(Val73Met) Probably damaging G=0.999/A=0.001 TNFRSF10C_00005
3 dbSNP c.242A>G Substitution Missense p.(Asn81Ser) Probably damaging A=0.998/G=0.002 TNFRSF10C_00006
3 1000 Genomes c.247C>T Substitution Missense p.(Pro83Ser) Probably damaging - TNFRSF10C_00011
3 dbSNP c.272A>G Substitution Missense p.(Cys91Tyr) Probably damaging - TNFRSF10C_00007
4 dbSNP c.350G>A Substitution Missense p.(Arg117Gln) Possibly damaging - TNFRSF10C_00008
5 dbSNP c.514C>T Substitution Missense p.(Pro172Ser) Possibly damaging C=0.993/T=0.007 TNFRSF10C_00009
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Legend: [ TNFRSF10C 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.
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. TNFRSF10C DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.