LOVD - Variant listings for TNFRSF10B

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55 entries
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Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

External ID Hide External ID column Descending
Ascending

Type Hide Type column Descending
Ascending

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 c.-256T>C 1000 Genomes Substitution UTR variant - Not determined - TNFRSF10B_00037
1 c.-91C>T dbSNP Substitution UTR variant - Not determined C=0.917/T=0.083 TNFRSF10B_00038
1 c.-86C>T 1000 Genomes Substitution UTR variant - Not determined - TNFRSF10B_00036
1 c.56G>A dbSNP Substitution Missense p.(Gly19Asp) Probably damaging C=0.989/A=0.011 TNFRSF10B_00002
1 c.95C>T
  (Reported 4 times)
dbSNP Substitution Missense p.(Pro32Leu) Benign - TNFRSF10B_00003
2 c.168C>T dbSNP Substitution Silent p.(=) Not determined - TNFRSF10B_00004
2 c.188C>G dbSNP Substitution Missense p.(Pro63Arg) Probably damaging - TNFRSF10B_00005
2 c.200C>T
  (Reported 4 times)
dbSNP Substitution Missense p.(Ala67Val) Possibly damaging - TNFRSF10B_00001
3 c.270C>T dbSNP Substitution Silent p.(=) Not determined C=0.999/T=0.001 TNFRSF10B_00006
3 c.279T>C dbSNP Substitution Silent p.(=) Not determined T=0.997/C=0.003 TNFRSF10B_00007
4 c.476G>T 1000 Genomes Substitution Missense p.(Gly159Val) Benign - TNFRSF10B_00033
5 c.524A>C dbSNP Substitution Missense p.(Asp175Ala) Probably damaging - TNFRSF10B_00054
5 c.533G>A dbSNP Substitution Missense p.(Cys178Tyr) Probably damaging - TNFRSF10B_00053
5 c.572T>C
  (Reported 3 times)
dbSNP Substitution Missense p.(Val191Ala) Benign - TNFRSF10B_00011
5 c.590C>T dbSNP Substitution Missense p.(Thr197Met) Probably damaging C=0.987/T=0.013 TNFRSF10B_00012
5 c.602G>T 1000 Genomes Substitution Missense p.(Ser201Ile) Possibly damaging - TNFRSF10B_00032
5 c.626G>T NHLBI Exome Sequencing Project Substitution Missense p.(Cys209Phe) Possibly damaging T=1/G=10757 TNFRSF10B_00052
5 c.657A>G 1000 Genomes Substitution Silent p.(=) Not determined - TNFRSF10B_00035
5 c.677T>C 1000 Genomes Substitution Missense p.(Ile226Thr) Benign - TNFRSF10B_00031
5 c.685G>A NHLBI Exome Sequencing Project Substitution Missense p.(Val229Met) Probably damaging A=1/G=10757 TNFRSF10B_00051
6 c.769C>T dbSNP Substitution Missense p.(Arg257Cys) Probably damaging C=0.999/T=0.001 TNFRSF10B_00008
6 c.770G>A 1000 Genomes Substitution Missense p.(Arg257His) Probably damaging - TNFRSF10B_00030
7 c.790C>T dbSNP Substitution Nonsense p.(Arg264*) Not determined - TNFRSF10B_00050
7 c.819T>C dbSNP Substitution Silent p.(=) Not determined - TNFRSF10B_00009
7 c.825C>T 1000 Genomes Substitution Silent p.(=) Not determined - TNFRSF10B_00034
7 c.845C>A 1000 Genomes Substitution Missense p.(Thr282Asn) Possibly damaging - TNFRSF10B_00029
8 c.793C>G NHLBI Exome Sequencing Project Substitution Missense p.(Pro265Ala) Probably damaging G=1/C=10757 TNFRSF10B_00049
8 c.940C>T 1000 Genomes Substitution Missense p.(Pro314Ser) Probably damaging - TNFRSF10B_00028
8 c.941C>T 1000 Genomes Substitution Missense p.(Pro314Leu) Probably damaging - TNFRSF10B_00027
9 c.1018C>T - Substitution Nonsense p.(Gln340*) Not determined - TNFRSF10B_00022
9 c.1020G>A - Substitution Silent p.(=) Not determined - TNFRSF10B_00015
9 c.1045G>T dbSNP Substitution Missense p.(Val349Leu) Possibly damaging - TNFRSF10B_00048
9 c.1058C>T - Substitution Missense p.(Ser353Phe) Not determined - TNFRSF10B_00016
9 c.1062G>A NHLBI Exome Sequencing Project Substitution Nonsense p.(Trp354*) Not determined A=1/G=10757 TNFRSF10B_00047
9 c.1063G>A
  (Reported 2 times)
- Substitution Missense p.(Glu355Lys) - - TNFRSF10B_00017
9 c.1087C>T
  (Reported 6 times)
- Substitution Missense p.(Leu363Phe) - - TNFRSF10B_00018
9 c.1099G>A
  (Reported 2 times)
- Substitution Missense p.(Glu367Lys) - - TNFRSF10B_00019
9 c.1127C>T dbSNP Substitution Missense p.(Ala376Val) - - TNFRSF10B_00046
9 c.1137G>C dbSNP Substitution Missense p.(Arg379Ser) - - TNFRSF10B_00045
9 c.1150_1151dup - Duplication Frameshift p.(Met385Argfs*3) Not determined - TNFRSF10B_00010
9 c.1151C>T NHLBI Exome Sequencing Project Substitution Missense p.(Thr384Met) Benign T=1/C=10757 TNFRSF10B_00044
9 c.1196T>C - Substitution Missense p.(Val399Ala) - - TNFRSF10B_00025
9 c.1223C>T
  (Reported 2 times)
dbSNP Substitution Missense p.(Thr408Met) Probably damaging - TNFRSF10B_00013
9 c.1227G>A dbSNP Substitution Silent p.(=) Not determined - TNFRSF10B_00014
9 c.1238T>A 1000 Genomes Substitution Missense p.(Leu413His) Benign - TNFRSF10B_00026
9 c.1245G>T - Substitution Missense p.(Lys415Asn) - - TNFRSF10B_00020
9 c.1247A>G
  (Reported 3 times)
- Substitution Missense p.(Gln416Arg) Not determined - TNFRSF10B_00023
9 c.1276G>A - Substitution Missense p.(Gly426Arg) Not determined - TNFRSF10B_00056
9 c.1277G>A - Substitution Missense p.(Gly426Glu) Not determined - TNFRSF10B_00055
9 c.1288T>A NHLBI Exome Sequencing Project Substitution Missense p.(Tyr430Asn) Probably damaging A=1/T=10757 TNFRSF10B_00042
9 c.1304C>T - Substitution Missense p.(Ala435Val) - - TNFRSF10B_00024
9 c.1306G>T
  (Reported 2 times)
- Substitution Missense p.(Asp436Tyr) - - TNFRSF10B_00021
9 c.*2314T>C 1000 Genomes Substitution UTR variant - Not determined - TNFRSF10B_00041
9 c.*2416C>T dbSNP Substitution UTR variant - Not determined - TNFRSF10B_00040
9 c.*2533T>A 1000 Genomes Substitution UTR variant - Not determined - TNFRSF10B_00039
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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.
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.