Full data view for gene TLR7

Information The variants shown are described using the NM_016562.3 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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ClinVar ID     

dbSNP ID     

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Disease     

ID_report     

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Panel size     

Owner     
?/. - c.32A>T - r.(?) p.(Gln11Leu) Parent #1 g.12903659A>T - - - TLR7_000010 recurrent, found 33 times PubMed: Tarpey 2009 - - Germline - 33/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 33 Lucy Raymond
-?/. - c.248C>T likely benign r.(?) p.(Ala83Val) Unknown g.12903875C>T - TLR7(NM_016562.3):c.248C>T (p.(Ala83Val)) - TLR7_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.665T>A - r.(?) p.(Val222Asp) Parent #1 g.12904292T>A - - - TLR7_000011 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.665T>A likely benign r.(?) p.(Val222Asp) Unknown g.12904292T>A - TLR7(NM_016562.3):c.665T>A (p.(Val222Asp)) - TLR7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1035G>A - r.(=) p.(=) Parent #1 g.12904662G>A - L345L - TLR7_000012 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 3 Lucy Raymond
?/. - c.1307C>T VUS r.(?) p.(Ser436Leu) Unknown g.12904934C>T - TLR7(NM_016562.3):c.1307C>T (p.(Ser436Leu)) - TLR7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1343C>T likely benign r.(?) p.(Ala448Val) Unknown g.12904970C>T - TLR7(NM_016562.3):c.1343C>T (p.(Ala448Val)) - TLR7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1563C>T likely benign r.(?) p.(=) Unknown g.12905190C>T - TLR7(NM_016562.3):c.1563C>T (p.C521=) - TLR7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1745C>T likely benign r.(?) p.(Ser582Leu) Unknown g.12905372C>T - TLR7(NM_016562.3):c.1745C>T (p.S582L) - TLR7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1850A>C likely benign r.(?) p.(Glu617Ala) Unknown g.12905477A>C - TLR7(NM_016562.3):c.1850A>C (p.E617A) - TLR7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2177A>G VUS r.(?) p.(Lys726Arg) Unknown g.12905804A>G - TLR7(NM_016562.3):c.2177A>G (p.(Lys726Arg)) - TLR7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2249G>A likely benign r.(?) p.(Arg750Gln) Unknown g.12905876G>A - TLR7(NM_016562.3):c.2249G>A (p.R750Q) - TLR7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2403G>A - r.(=) p.(=) Parent #1 g.12906030G>A - T801T - TLR7_000013 recurrent, found 15 times PubMed: Tarpey 2009 - - Germline - 15/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 15 Lucy Raymond
?/. - c.2716G>A VUS r.(?) p.(Glu906Lys) Unknown g.12906343G>A - TLR7(NM_016562.3):c.2716G>A (p.E906K) - TLR7_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3094G>A likely benign r.(?) p.(Ala1032Thr) Unknown g.12906721G>A - TLR7(NM_016562.3):c.3094G>A (p.A1032T) - TLR7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3094G>A benign r.(?) p.(Ala1032Thr) Unknown g.12906721G>A - TLR7(NM_016562.3):c.3094G>A (p.A1032T) - TLR7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*745_*746insA - - p.(=) Unknown g.12907522_12907523insA g.12889403_12889404insA - - TLR7_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*758dup - - p.(=) Unknown g.12907535dup g.12889416dup - - TLR7_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
./. - c.*881C>G - r.(=) p.(=) Unknown g.12907658C>G g.12889539C>G - - TLR7_000014 for details see the Uveogene database PubMed: Mizuki 2011 - rs3853839 Germline - 67/400 cases - 0 - DNA arraySNP Blood - Behcet - PubMed: Mizuki 2011 Japanese cohort F;M - Japan Japanese - 0 for details see the Uveogene database - 67 Peizeng Yang
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