LOVD - Variant listings for TNFRSF10A

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56 entries
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dbSNP 1 c.32G>T Substitution Missense c.(Gly11Val) Unknown G=0.995/T=0.005 TNFRSF10A_00007
dbSNP 1 c.98C>T Substitution Missense p.(Thr33Ile) Unknown C=0.924/T=0.076 TNFRSF10A_00008
dbSNP 1 c.206G>C Substitution Missense p.(Arg69Pro) Unknown - TNFRSF10A_00009
dbSNP 1 c.227C>T Substitution Missense p.(Pro76Leu) Unknown - TNFRSF10A_00010
dbSNP 1 c.306+5G>C Substitution Splice site - Not determined G=0.995/C=0.005 TNFRSF10A_00011
dbSNP 2 c.314C>G Substitution Missense p.(Pro105Arg) Possibly damaging - TNFRSF10A_00012
1000 Genomes dbSNP 2 c.328A>G Substitution Missense p.(Thr110Ala) Benign - TNFRSF10A_00013
dbSNP 2 c.341A>G Substitution Missense p.(His114Arg) Not determined A=0.999/G=0.001 TNFRSF10A_00055
dbSNP 2 c.370dup Duplication Frameshift p.(Glu124Glyfs*3) Not determined - TNFRSF10A_00006
NHLBI Exome Sequencing Project 2 c.397C>T Substitution Missense p.(Pro133Ser) Probably damaging T=2/C=10757 TNFRSF10A_00035
dbSNP 3 c.422A>G
  (Reported 3 times)
Substitution Missense p.(His141Arg) Possibly damaging - TNFRSF10A_00002
1000 Genomes 3 c.465C>A Substitution Silent p.(=) Not determined - TNFRSF10A_00014
1000 Genomes 3 c.517+6G>C Substitution Splice site - Not determined - TNFRSF10A_00015
dbSNP 4 c.587G>A Substitution Missense p.(Arg196Gln) Not determined - TNFRSF10A_00036
NHLBI Exome Sequencing Project 4 c.613C>T Substitution Missense p.(Arg205Trp) Probably damaging T=1/C=10757 TNFRSF10A_00037
dbSNP 4 c.626G>C
  (Reported 8 times)
Substitution Missense p.(Arg209Thr) Benign - TNFRSF10A_00003
dbSNP 5 c.633C>G Substitution Missense p.(Cys211Trp) Not determined - TNFRSF10A_00038
NHLBI Exome Sequencing Project 5 c.652G>T Substitution Missense p.(Val218Phe) Probably damaging T=1/G=10757 TNFRSF10A_00040
dbSNP 5 c.659A>G Substitution Missense p.(Asp220Gly) Not determined - TNFRSF10A_00039
dbSNP 5 c.683A>C
  (Reported 6 times)
Substitution Missense p.(Glu228Ala) Possibly damaging - TNFRSF10A_00005
dbSNP 6 c.736G>T Substitution Missense p.(Val246Leu) Not determined - TNFRSF10A_00041
NHLBI Exome Sequencing Project 8 c.837T>A Substitution Nonsense p.(Cys279*) Unknown A=2/T=10756 TNFRSF10A_00042
dbSNP 8 c.845G>A Substitution Nonsense p.(Arg282His) Not determined - TNFRSF10A_00043
dbSNP 8 c.854T>A Substitution Missense p.(Leu285His) Not determined - TNFRSF10A_00044
dbSNP 8 c.859C>T Substitution Nonsense p.(Arg287*) Not determined C=0.999/T=0.001 TNFRSF10A_00054
NHLBI Exome Sequencing Project 8 c.865C>T Substitution Missense p.(Pro289Ser) Probably damaging T=1/C=10757 TNFRSF10A_00053
dbSNP 8 c.889A>C Substitution Missense p.(Asn297His) Probably damaging A=0.981/C=0.019 TNFRSF10A_00016
1000 Genomes 8 c.891C>T Substitution Silent p.(=) Not determined - TNFRSF10A_00017
dbSNP 8 c.906C>T Substitution Silent p.(=) Not determined C=0.998/T=0.002 TNFRSF10A_00018
dbSNP 8 c.956A>G Substitution Missense p.(Glu319Gly) Not determined - TNFRSF10A_00052
1000 Genomes 8 c.959C>T Substitution Missense p.(Pro320Leu) Probably damaging - TNFRSF10A_00019
dbSNP 8 c.976G>A Substitution Missense p.(Val326Ile) Not determined - TNFRSF10A_00051
1000 Genomes 8 c.999G>A Substitution Silent p.(=) Not determined - TNFRSF10A_00020
1000 Genomes 9 c.1019C>T Substitution Missense p.(Pro340Leu) Probably damaging - TNFRSF10A_00021
dbSNP 9 c.1070G>A Substitution Missense p.(Gly357Asp) Not determined - TNFRSF10A_00050
1000 Genomes 9 c.1086G>T Substitution Missense p.(Glu362Asp) Possibly damaging - TNFRSF10A_00022
dbSNP 9 c.1087+7G>A Substitution Splice site - Not determined G=0.983/A=0.017 TNFRSF10A_00023
- 9 c.1117A>G Substitution Missense p.(Asn373Asp) Not determined - TNFRSF10A_00057
- 10 c.1127C>T
  (Reported 2 times)
Substitution Missense p.(Pro376Leu) Not determined - TNFRSF10A_00004
NHLBI Exome Sequencing Project 10 c.1135T>C Substitution Missense p.(Ser379Pro) Probably damaging C=1/T=10755 TNFRSF10A_00049
- 10 c.1205C>T Substitution Missense p.(Ala402Val) Not determined - TNFRSF10A_00056
1000 Genomes 10 c.1209C>T Substitution Silent p.(=) Not determined - TNFRSF10A_00024
1000 Genomes 10 c.1232T>C Substitution Missense p.(Met411Thr) Probably damaging - TNFRSF10A_00025
1000 Genomes 10 c.1245G>T Substitution Missense p.(Trp415Cys) Probably damaging - TNFRSF10A_00026
dbSNP 10 c.1271C>T Substitution Missense p.(Ser424Leu) Not determined - TNFRSF10A_00048
NHLBI Exome Sequencing Project 10 c.1283T>C Substitution Missense p.(Leu428Pro) Probably damaging C=2/T=10756 TNFRSF10A_00047
dbSNP 10 c.1288G>A Substitution Missense p.(Asp430Asn) Probably damaging - TNFRSF10A_00027
dbSNP 10 c.1300A>C Substitution Silent p.(=) Not determined - TNFRSF10A_00028
dbSNP 10 c.1322G>A
  (Reported 7 times)
Substitution Missense p.(Arg441Lys) Benign - TNFRSF10A_00001
dbSNP 10 c.1341C>G Substitution Silent p.(=) Not determined C=0.998/G=0.002 TNFRSF10A_00030
NHLBI Exome Sequencing Project 10 c.1384G>A Substitution Missense p.(Gly462Ser) Probably damaging A=1/G=10757 TNFRSF10A_00046
dbSNP 10 c.1406G>T Substitution Stop codon mutated p.(*469Leuext*15) Not determined G=0.999/T=0.001 TNFRSF10A_00045
1000 Genomes 10 c.*59T>G Substitution UTR variant - Not determined - TNFRSF10A_00034
dbSNP 10 c.*70del Deletion UTR variant - Not determined - TNFRSF10A_00033
dbSNP 10 c.*70dup Duplication UTR variant - Not determined - TNFRSF10A_00031
1000 Genomes 10 c.*197T>G Substitution UTR variant - Not determined - TNFRSF10A_00032
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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.
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.