Unique variants in gene TLR7

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

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. 1 - c.32A>T r.(?) p.(Gln11Leu) - - g.12903659A>T - - - TLR7_000010 recurrent, found 33 times PubMed: Tarpey 2009 - - Germline - 33/208 cases - - - Lucy Raymond
-?/., ?/. 2 - c.665T>A r.(?) p.(Val222Asp) - likely benign g.12904292T>A - TLR7(NM_016562.3):c.665T>A (p.(Val222Asp)) - TLR7_000011 VKGL data sharing initiative Nederland, found once, nonrecurrent change PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - VKGL-NL_Leiden, Lucy Raymond
-?/. 1 - c.1035G>A r.(=) p.(=) - - g.12904662G>A - L345L - TLR7_000012 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - - - Lucy Raymond
?/. 1 - c.1307C>T r.(?) p.(Ser436Leu) - VUS g.12904934C>T - TLR7(NM_016562.3):c.1307C>T (p.(Ser436Leu)) - TLR7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1343C>T r.(?) p.(Ala448Val) - likely benign g.12904970C>T - TLR7(NM_016562.3):c.1343C>T (p.(Ala448Val)) - TLR7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1563C>T r.(?) p.(=) - likely benign g.12905190C>T - TLR7(NM_016562.3):c.1563C>T (p.C521=) - TLR7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1745C>T r.(?) p.(Ser582Leu) - likely benign g.12905372C>T - TLR7(NM_016562.3):c.1745C>T (p.S582L) - TLR7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1850A>C r.(?) p.(Glu617Ala) - likely benign g.12905477A>C - TLR7(NM_016562.3):c.1850A>C (p.E617A) - TLR7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/., -?/. 2 - c.2177A>G r.(?) p.(Lys726Arg) - VUS, likely benign g.12905804A>G - TLR7(NM_016562.3):c.2177A>G (p.K726R, p.(Lys726Arg)) - TLR7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.2249G>A r.(?) p.(Arg750Gln) - likely benign g.12905876G>A - TLR7(NM_016562.3):c.2249G>A (p.R750Q) - TLR7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2403G>A r.(=) p.(=) - - g.12906030G>A - T801T - TLR7_000013 recurrent, found 15 times PubMed: Tarpey 2009 - - Germline - 15/208 cases - - - Lucy Raymond
?/. 1 - c.2716G>A r.(?) p.(Glu906Lys) - VUS g.12906343G>A - TLR7(NM_016562.3):c.2716G>A (p.E906K) - TLR7_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3048A>C r.(?) p.(=) - likely benign g.12906675A>C - TLR7(NM_016562.3):c.3048A>C (p.P1016=) - TLR7_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.3094G>A r.(?) p.(Ala1032Thr) - benign g.12906721G>A - TLR7(NM_016562.3):c.3094G>A (p.A1032T) - TLR7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.*745_*746insA - p.(=) - - g.12907522_12907523insA g.12889403_12889404insA - - TLR7_000002 - - - - Germline - - - - - Yu Sun
?/. 1 - c.*758dup - p.(=) - - g.12907535dup g.12889416dup - - TLR7_000001 - - - - Germline - - - - - Yu Sun
./. 1 - c.*881C>G r.(=) p.(=) - - g.12907658C>G g.12889539C>G - - TLR7_000014 for details see the Uveogene database PubMed: Mizuki 2011 - rs3853839 Germline - 67/400 cases - - - Peizeng Yang
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