Full data view for gene TXNL4A

Information The variants shown are described using the NM_006701.2 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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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     
+/. _1_3_ c.-328856_*878911del r.0 p.0 Parent #1 - pathogenic g.76854774_78077248del - - del(18)(q23_qter) TXNL4A_000000 1.164 Mb deletion PubMed: Wieczorek 2014, Journal: Wieczorek 2014 - - Germline - - - - - DNA SEQ, SEQ-NG, arraySNP, MLPA - - BMKS 25434003-FamBMKS004 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Viet Nam - - - - - 1 Johan den Dunnen
+/. _1_3_ c.-328856_*892040del r.0 p.0 Paternal (confirmed) - pathogenic g.76841645_78077248del - - - TXNL4A_000009 1.235 Mb deletion PubMed: Wieczorek 2014, Journal: Wieczorek 2014 - - Germline yes - - - - DNA SEQ, arrayCGH, MLPA - - BMKS 25434003-FamBMKS007 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
./. - c.-266788_*29371021del r.0? p.0? Unknown - pathogenic g.48362664_78015180del - - - ATP8B1_000025 mosaicism, hemizygous in 0.46 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-?/. - c.-50121C>G r.(?) p.(=) Unknown - likely benign g.77798513G>C - RBFA(NM_024805.3):c.387G>C (p.(Leu129=)) - RBFA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-583C>T r.(?) p.(=) Unknown - benign g.77748975G>A g.79988975G>A TXNL4A(NM_006701.5):c.-583C>T - TXNL4A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-580G>A r.(?) p.(=) Unknown - benign g.77748972C>T g.79988972C>T TXNL4A(NM_006701.5):c.-580G>A - TXNL4A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-467C>G r.(?) p.(=) Unknown - benign g.77748859G>C g.79988859G>C TXNL4A(NM_006701.5):c.-467C>G - TXNL4A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-309C>G r.(?) p.(=) Unknown - benign g.77748701G>C g.79988701G>C TXNL4A(NM_006701.5):c.-309C>G - TXNL4A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-267C>T r.(?) p.(=) Unknown - benign g.77748659G>A g.79988659G>A TXNL4A(NM_006701.5):c.-267C>T - TXNL4A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. _1 c.-245A>G - - Both (homozygous) - likely benign g.77748637T>C g.79988637T>C - - TXNL4A_000011 - PubMed: Wieczorek 2014, Journal: Wieczorek 2014 - - Germline - - - - - DNA SEQ, SEQ-NG, arraySNP, MLPA - - BMKS 25434003-FamBMKS008 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 multi-generation family, >5 affected, unaffected heterozygous carrier parents/relatives M - - Alaska - - - - 5 Johan den Dunnen
+/. _1 c.-245_-212del r.? p.? Both (homozygous) - pathogenic g.77748607_77748640del g.79988607_79988640del - - TXNL4A_000001 - Goos et al. Identification of causative variants in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia - - Germline - - - - - DNA SEQ-NG whole blood - BMKS - Goos Identification of causative variants in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia - M yes - - - - - - 1 Jacqueline Goos
+/. _1 c.-245_-212del r.? p.? Both (homozygous) - pathogenic g.77748607_77748640del g.79988607_79988640del - - TXNL4A_000007 - PubMed: Wieczorek 2014, Journal: Wieczorek 2014, OMIM:var0006 - - Germline yes - - - - DNA SEQ, SEQ-NG, arraySNP, MLPA - - BMKS 25434003-FamBMKS008 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 multi-generation family, >5 affected, unaffected heterozygous carrier parents/relatives M - - Alaska - - - - 5 Johan den Dunnen
+/. _1 c.-245_-212del r.? p.? Unknown - NA g.77748607_77748640del g.79988607_79988640del - - TXNL4A_000001 expression cloning luciferase reporter gene assays HEK293 cells shows 0.28 promoter activity PubMed: Wieczorek 2014, Journal: Wieczorek 2014 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. _1 c.-245_-212del r.? p.? Parent #1 - pathogenic g.77748607_77748640del g.79988607_79988640del - - TXNL4A_000001 - PubMed: Wieczorek 2014, Journal: Wieczorek 2014 - - Germline - 1/3343 controls - - - DNA SEQ - - Healthy/Control 25434003-con PubMed: Wieczorek 2014, Journal: Wieczorek 2014 3,165 German and 178 South Asian controls - - Germany - - - - - 1 Johan den Dunnen
+/. _1 c.-222_-189del r.? p.? Maternal (confirmed) - pathogenic g.77748603_77748636del g.79988603_79988636del - - TXNL4A_000003 - Goos et al. Identification of causative variants in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia - - Germline - - - - - DNA SEQ-NG whole blood - BMKS - Goos Identification of causative variants in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia - F no - - - - - - 4 Jacqueline Goos
+/. _1 c.-222_-189del r.? p.? Both (homozygous) - pathogenic g.77748603_77748636del g.79988603_79988636del - - TXNL4A_000003 - Goos et al. Identification of causative variants in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia - - Germline - - - - - DNA SEQ-NG whole blood - BMKS - Goos Identification of causative variants in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia - M no - - - - - - 1 Jacqueline Goos
+/. _1 c.-222_-189del r.=|red p.=|red Maternal (confirmed) - pathogenic g.77748603_77748636del g.79988603_79988636del - - TXNL4A_000008 reduced expression mRNA PubMed: Wieczorek 2014, Journal: Wieczorek 2014, OMIM:var0001 - rs535089924 Germline yes - - - - DNA SEQ, SEQ-NG, arraySNP, MLPA - - BMKS 25434003-FamBMKS001 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no Germany - - - - - 2 Johan den Dunnen
+/. _1 c.-222_-189del r.=|red p.=|red Maternal (confirmed) - pathogenic g.77748603_77748636del g.79988603_79988636del - - TXNL4A_000008 reduced expression mRNA PubMed: Wieczorek 2014, Journal: Wieczorek 2014, OMIM:var0001 - rs535089924 Germline - - - - - DNA SEQ, SEQ-NG, arraySNP, MLPA - - BMKS 25434003-FamBMKS002 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Switzerland - - - - - 1 Johan den Dunnen
+/. _1 c.-222_-189del r.? p.? Parent #2 - pathogenic g.77748603_77748636del g.79988603_79988636del - - TXNL4A_000008 - PubMed: Wieczorek 2014, Journal: Wieczorek 2014, OMIM:var0001 - rs535089924 Germline - - - - - DNA SEQ, SEQ-NG, arraySNP, MLPA - - BMKS 25434003-FamBMKS004 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Viet Nam - - - - - 1 Johan den Dunnen
+/. _1 c.-222_-189del r.=|red p.=|red Paternal (confirmed) - pathogenic g.77748603_77748636del g.79988603_79988636del - - TXNL4A_000008 reduced mRNA expression PubMed: Wieczorek 2014, Journal: Wieczorek 2014, OMIM:var0001 - rs535089924 Germline - - - - - DNA SEQ, SEQ-NG, arraySNP, MLPA - - BMKS 25434003-FamBMKS005 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Pakistan - - - - - 1 Johan den Dunnen
+/. _1 c.-222_-189del r.? p.? Paternal (confirmed) - pathogenic g.77748603_77748636del g.79988603_79988636del - - TXNL4A_000008 - PubMed: Wieczorek 2014, Journal: Wieczorek 2014, OMIM:var0001 - rs535089924 Germline - - - - - DNA SEQ, arrayCGH, MLPA - - BMKS 25434003-FamBMKS006 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Netherlands - - - - - 1 Johan den Dunnen
+/. _1 c.-222_-189del r.? p.? Maternal (confirmed) - pathogenic g.77748603_77748636del g.79988603_79988636del - - TXNL4A_000008 - PubMed: Wieczorek 2014, Journal: Wieczorek 2014, OMIM:var0001 - rs535089924 Germline yes - - - - DNA SEQ, arrayCGH, MLPA - - BMKS 25434003-FamBMKS007 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+/. _1 c.-222_-189del r.? p.? Maternal (confirmed) - pathogenic g.77748603_77748636del g.79988603_79988636del - - TXNL4A_000008 - PubMed: Wieczorek 2014, Journal: Wieczorek 2014, OMIM:var0001 - rs535089924 Germline - - - - - DNA SEQ, arrayCGH, MLPA - - BMKS 25434003-FamBMKS009 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1 c.-222_-189del r.? p.? Parent #2 - pathogenic g.77748603_77748636del g.79988603_79988636del - - TXNL4A_000008 - PubMed: Wieczorek 2014, Journal: Wieczorek 2014, OMIM:var0001 - rs535089924 Germline - - - - - DNA SEQ, arraySNP, MLPA - - BMKS 25434003-FamBMKS010 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France - - - - - 1 Johan den Dunnen
+/. - c.-222_-189del r.(=) p.(=) Unknown - NA g.77748603_77748636del g.79988603_79988636del - - TXNL4A_000003 expression cloning luciferase reporter gene assays HEK293 cells shows 0.41 promoter activity PubMed: Wieczorek 2014, Journal: Wieczorek 2014 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. _1 c.-222_-189del r.? p.? Both (homozygous) - pathogenic g.77748603_77748636del g.79988603_79988636del - - TXNL4A_000003 no phenotype data available PubMed: Wieczorek 2014, Journal: Wieczorek 2014 - - Germline - 1/3343 controls - - - DNA SEQ - - ? 25434003-con PubMed: Wieczorek 2014, Journal: Wieczorek 2014 3165 German and 178 South Asian controls - - - - - - - - 1 Johan den Dunnen
+/. _1 c.-222_-189del r.? p.? Parent #1 - pathogenic g.77748603_77748636del g.79988603_79988636del - - TXNL4A_000003 - PubMed: Wieczorek 2014, Journal: Wieczorek 2014 - - Germline - 45/3343 controls - - - DNA SEQ - - Healthy/Control 25434003-con PubMed: Wieczorek 2014, Journal: Wieczorek 2014 3,165 German and 178 South Asian controls - - - - - - - - 45 Johan den Dunnen
+?/. - c.-222_-189del r.(?) p.(=) Unknown - likely pathogenic g.77748603_77748636del - TXNL4A(NM_001305563.2):c.-60-10913_-60-10880del - TXNL4A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. _1 c.-222_-189dup - - Parent #1 - likely benign g.77748603_77748636dup g.79988603_79988636dup 77,748,581_77,748,614dup - TXNL4A_000012 - PubMed: Wieczorek 2014, Journal: Wieczorek 2014 - - Germline - 11/3343 controls - - - DNA SEQ - - Healthy/Control 25434003-con PubMed: Wieczorek 2014, Journal: Wieczorek 2014 controls, 3165 German and 178 South Asian - - - German, Asian (south) - - - - 11 Johan den Dunnen
+/. _1_3_ c.0 r.0 p.0 Maternal (confirmed) - pathogenic g.(77320000_77421290)_(77904990_78000000)del - - arr[hg19] 18q23(77,421,290–77,904,990)x1 TXNL4A_000000 0.484Mb deletion PubMed: Wieczorek 2014, Journal: Wieczorek 2014 - - Germline - - - - - DNA SEQ, arrayCGH, MLPA - - BMKS 25434003-FamBMKS006 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Netherlands - - - - - 1 Johan den Dunnen
+/. _1_3_ c.0 r.0 p.0 Parent #1 - pathogenic g.pter_?del::(73270000_73376178)_(78077248_qter)del - 46,XX,r(18)(p14q23) - TXNL4A_000000 - PubMed: Wieczorek 2014, Journal: Wieczorek 2014 - - De novo - - - - - DNA SEQ, arrayCGH, MLPA - - BMKS 25434003-FamBMKS009 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 1 c.37C>T r.37c>u p.Gln13* Paternal (confirmed) - pathogenic g.77748356G>A g.79988356G>A - - TXNL4A_000005 no NMD PubMed: Wieczorek 2014, Journal: Wieczorek 2014, OMIM:var0003 - rs727502794 Germline - - - - - DNA SEQ, SEQ-NG, arraySNP, MLPA - - BMKS 25434003-FamBMKS002 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Switzerland - - - - - 1 Johan den Dunnen
+/. 5 c.131del r.131del p.Val44Alafs*48 Maternal (confirmed) - pathogenic g.77748262del g.79988262del - - TXNL4A_000006 no NMD PubMed: Wieczorek 2014, Journal: Wieczorek 2014, OMIM:var0004 - rs727502795 Germline - - - - - DNA SEQ, SEQ-NG, arraySNP, MLPA - - BMKS 25434003-FamBMKS005 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Pakistan - - - - - 1 Johan den Dunnen
-?/. - c.153+10C>G r.(?) p.(?) Unknown - likely benign g.77748230G>C - - - TXNL4A_000020 - - - rs372609874 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.258-4G>A r.spl? p.? Unknown - likely benign g.77733860C>T g.79973860C>T TXNL4A(NM_006701.5):c.258-4G>A - TXNL4A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.258-2A>G r.spl p.? Paternal (confirmed) - pathogenic g.77733858T>C g.79973858T>C - - TXNL4A_000002 - Goos et al. Identification of causative variants in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia - - Germline - - - - - DNA SEQ-NG whole blood - BMKS - Goos Identification of causative variants in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia - F no - - - - - - 4 Jacqueline Goos
+/. - c.258-2A>G r.spl? p.? Unknown - pathogenic g.77733858T>C g.79973858T>C TXNL4A(NM_006701.5):c.258-2A>G - TXNL4A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i_3_ c.(257+1_258-1)_(*818_?)del r.? p.? Parent #1 - pathogenic g.(77830000_77732867)_(77733857_77737597)del - - - TXNL4A_000010 exon 3 deletion PubMed: Wieczorek 2014, Journal: Wieczorek 2014, OMIM:var0005 - - Germline - - - - - DNA SEQ, arraySNP, MLPA - - BMKS 25434003-FamBMKS010 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France - - - - - 1 Johan den Dunnen
+/. 3 c.349G>T r.349g>u p.Glu117* Paternal (confirmed) - pathogenic g.77733765C>A g.79973765C>A - - TXNL4A_000004 no NMD PubMed: Wieczorek 2014, Journal: Wieczorek 2014, OMIM:var0002 - rs727502793 Germline yes - - - - DNA SEQ, SEQ-NG, arraySNP, MLPA - - BMKS 25434003-FamBMKS001 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no Germany - - - - - 2 Johan den Dunnen
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