All transcript variants in gene TLR7

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

26 entries on 1 page. Showing entries 1 - 26.
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Effect     

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     
?/. - c.32A>T r.(?) p.(Gln11Leu) - VUS g.12903659A>T g.12885540A>T - - TLR7_000010 recurrent, found 33 times PubMed: Tarpey 2009 - - Germline - 33/208 cases - 0 - Lucy Raymond
-?/. - c.248C>T r.(?) p.(Ala83Val) - likely benign g.12903875C>T g.12885756C>T TLR7(NM_016562.3):c.248C>T (p.(Ala83Val)) - TLR7_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.665T>A r.(?) p.(Val222Asp) - VUS g.12904292T>A g.12886173T>A - - TLR7_000011 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.665T>A r.(?) p.(Val222Asp) - likely benign g.12904292T>A g.12886173T>A TLR7(NM_016562.3):c.665T>A (p.(Val222Asp)) - TLR7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1035G>A r.(=) p.(=) - likely benign g.12904662G>A g.12886543G>A L345L - TLR7_000012 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - Lucy Raymond
?/. - c.1307C>T r.(?) p.(Ser436Leu) - VUS g.12904934C>T g.12886815C>T TLR7(NM_016562.3):c.1307C>T (p.(Ser436Leu)) - TLR7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1343C>T r.(?) p.(Ala448Val) - likely benign g.12904970C>T g.12886851C>T TLR7(NM_016562.3):c.1343C>T (p.(Ala448Val)) - TLR7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1563C>T r.(?) p.(Cys521=) - likely benign g.12905190C>T g.12887071C>T TLR7(NM_016562.3):c.1563C>T (p.C521=) - TLR7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1745C>T r.(?) p.(Ser582Leu) - likely benign g.12905372C>T g.12887253C>T TLR7(NM_016562.3):c.1745C>T (p.S582L) - TLR7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1850A>C r.(?) p.(Glu617Ala) - likely benign g.12905477A>C g.12887358A>C TLR7(NM_016562.3):c.1850A>C (p.E617A) - TLR7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.2129_2132del r.(?) p.(Gln710Argfs*18) - likely pathogenic (recessive) g.12905756_12905759del g.12887637_12887640del - - TLR7_000019 - PubMed: van der Made 2020 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.2129_2132del r.(?) p.(Gln710Argfs*18) - likely pathogenic (recessive) g.12905756_12905759del g.12887637_12887640del - - TLR7_000019 - PubMed: van der Made 2020 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.2129_2132del r.(?) p.(Gln710ArgfsTer18) - - g.12905756_12905759del - - - TLR7_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2177A>G r.(?) p.(Lys726Arg) - VUS g.12905804A>G g.12887685A>G TLR7(NM_016562.3):c.2177A>G (p.K726R, p.(Lys726Arg)) - TLR7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.2177A>G r.(?) p.(Lys726Arg) - likely benign g.12905804A>G g.12887685A>G TLR7(NM_016562.3):c.2177A>G (p.K726R, p.(Lys726Arg)) - TLR7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2249G>A r.(?) p.(Arg750Gln) - likely benign g.12905876G>A g.12887757G>A TLR7(NM_016562.3):c.2249G>A (p.R750Q) - TLR7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.2383G>T r.(?) p.(Val795Phe) - likely pathogenic (recessive) g.12906010G>T g.12887891G>T - - TLR7_000020 - PubMed: van der Made 2020 - - Germline yes - - 0 - Johan den Dunnen
+?/. - c.2383G>T r.(?) p.(Val795Phe) - likely pathogenic (recessive) g.12906010G>T g.12887891G>T - - TLR7_000020 - PubMed: van der Made 2020 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.2383G>T r.(?) p.(Val795Phe) - - g.12906010G>T - - - TLR7_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2403G>A r.(=) p.(=) - likely benign g.12906030G>A g.12887911G>A T801T - TLR7_000013 recurrent, found 15 times PubMed: Tarpey 2009 - - Germline - 15/208 cases - 0 - Lucy Raymond
?/. - c.2716G>A r.(?) p.(Glu906Lys) - VUS g.12906343G>A g.12888224G>A TLR7(NM_016562.3):c.2716G>A (p.E906K) - TLR7_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3048A>C r.(?) p.(Pro1016=) - likely benign g.12906675A>C g.12888556A>C TLR7(NM_016562.3):c.3048A>C (p.P1016=) - TLR7_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.3094G>A r.(?) p.(Ala1032Thr) - benign g.12906721G>A g.12888602G>A TLR7(NM_016562.3):c.3094G>A (p.A1032T) - TLR7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.*758dup r.(=) p.(=) - VUS g.12907535dup g.12889416dup - - TLR7_000001 - - - - Germline - - - - - Yu Sun
?/. - c.*758dup r.(=) p.(=) - VUS g.12907535dup g.12889416dup - - TLR7_000002 - - - - Germline - - - - - Yu Sun
./. - c.*881C>G r.(=) p.(=) - VUS g.12907658C>G g.12889539C>G - - TLR7_000014 for details see the Uveogene database PubMed: Mizuki 2011 - rs3853839 Germline - 67/400 cases - 0 - Peizeng Yang
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