Full data view for gene TLR1

Information The variants shown are described using the NM_003263.3 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.301T>C r.(?) p.(Ser101Pro) Unknown - VUS g.38800152A>G - - - TLR1_000008 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.301T>C r.(?) p.(Ser101Pro) Unknown - VUS g.38800152A>G - - - TLR1_000008 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.308A>G r.(?) p.(Asn103Ser) Unknown - VUS g.38800145T>C - - - TLR1_000007 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.431T>C r.(?) p.(Leu144Pro) Unknown - VUS g.38800022A>G - - - TLR1_000004 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.431T>C r.(?) p.(Leu144Pro) Unknown - VUS g.38800022A>G - - - TLR1_000004 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.431T>C r.(?) p.(Leu144Pro) Unknown - VUS g.38800022A>G - - - TLR1_000004 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.431T>C r.(?) p.(Leu144Pro) Unknown - VUS g.38800022A>G - - - TLR1_000004 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.431T>C r.(?) p.(Leu144Pro) Unknown - VUS g.38800022A>G - - - TLR1_000004 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.431T>C r.(?) p.(Leu144Pro) Unknown - VUS g.38800022A>G - - - TLR1_000004 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.431T>C r.(?) p.(Leu144Pro) Unknown - VUS g.38800022A>G - - - TLR1_000004 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.431T>C r.(?) p.(Leu144Pro) Unknown - VUS g.38800022A>G - - - TLR1_000004 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.538G>C r.(?) p.(Asp180His) Unknown - VUS g.38799915C>G - - - TLR1_000006 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.750del r.(?) p.(Leu251*) Unknown - VUS g.38799704del - TLR1(NM_003263.4):c.750delC (p.L251*) - TLR1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.948_949del r.(?) p.(Ser317Leufs*4) Unknown - VUS g.38799504_38799505del g.38797884_38797885del - - TLR1_000005 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.948_949del r.(?) p.(Ser317Leufs*4) Unknown - VUS g.38799504_38799505del - - - TLR1_000005 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1138C>T r.(?) p.(Gln380Ter) Unknown - VUS g.38799315G>A g.38797694G>A c.1138C>T - TLR1_000010 - PubMed: Duvvari 2016 - - Germline - 4/6 affected - - - DNA SEQ, SEQ-NG - WES retinal disease Fam1 PubMed: Duvvari 2016 3-generation family, 6 affected (4F, 2M) - - Netherlands white - - - - 6 LOVD
?/. - c.2147A>G r.(?) p.(His716Arg) Unknown - VUS g.38798306T>C g.38796685T>C - - TLR1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2159A>C r.(?) p.(His720Pro) Unknown - VUS g.38798294T>G g.38796673T>G 2159T>G - TLR1_000009 - PubMed: Duvvari 2016 - rs113706342 Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease Pat7AB PubMed: Duvvari 2016 patient - - Netherlands white - - - - 1 LOVD
?/. - c.2204C>T r.(?) p.(Pro735Leu) Unknown - VUS g.38798249G>A g.38796628G>A TLR1(NM_003263.3):c.2204C>T (p.P735L) - TLR1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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