Full data view for gene TF

Information The variants shown are described using the NM_001063.3 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
Legend   How to query  

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.-2A>G r.(?) p.(=) Unknown - benign g.133465283A>G g.133746439A>G TF(NM_001063.3):c.-2A>G - TF_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-2A>G r.(?) p.(=) Unknown - benign g.133465283A>G g.133746439A>G TF(NM_001063.3):c.-2A>G - TF_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.521C>T r.(?) p.(Ser174Leu) Unknown - VUS g.133474225C>T g.133755381C>T TF(NM_001063.3):c.521C>T (p.S174L) - TF_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.624G>A r.(?) p.(Ser208=) Unknown - benign g.133474328G>A g.133755484G>A TF(NM_001063.3):c.624G>A (p.S208=) - TF_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.624G>A r.(?) p.(Ser208=) Unknown - benign g.133474328G>A g.133755484G>A TF(NM_001063.3):c.624G>A (p.S208=) - TF_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.665_668del r.(665_668)del p.(Ala222Valfs*32) Maternal (confirmed) - likely pathogenic g.133475155_133475158del g.133756311_133756314del - - TF_000001 - Pending - - Germline - - - 0 - DNA SEQ Peripheral blood - atransferrinemia - - - M ? Germany - - 0 - - 1 Mayka Sanchez
-?/. - c.956A>G r.(?) p.(His319Arg) Unknown - likely benign g.133476698A>G g.133757854A>G TF(NM_001063.3):c.956A>G (p.H319R) - TF_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1027C>T r.(?) p.(Arg343Trp) Unknown - VUS g.133476769C>T g.133757925C>T TF(NM_001354703.1):c.895C>T (p.R299W) - TF_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 10 c.1253C>A r.(1253c>a) p.(Ala418Glu) Maternal (confirmed) - likely pathogenic g.133483075C>A g.133764231C>A - - TF_000003 not in 100 control chromosomes tested Pending - - Germline - - - 0 - DNA SEQ Peripheral blood - atransferrinemia - - - F no Spain - - 0 - - 1 Mayka Sanchez
-/. - c.1342= r.(=) p.(Val448=) Unknown - benign g.133485133A>G g.133766289A>G TF(NM_001063.3):c.1342A>G (p.I448V) - TF_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1572G>C r.(?) p.(Leu524=) Unknown - benign g.133486958G>C g.133768114G>C TF(NM_001063.3):c.1572G>C (p.L524=) - TF_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/? 13i c.1623-63del r.spl? p.(?) Both (homozygous) - likely pathogenic g.133489289del g.133770445del 293-63del - TF_000012 in silico analysis indicate that this deletion is predicted to generate a higher score cryptic branch point leading to the production of an altered mRNA molecule - - - Germline - - - 0 - DNA SEQ - - atransferrinemia - - 2-generation family, 1 affected, second degree consanguineous parents F yes Tunisia North african 00y06m 0 - blood transfusions every 1 to 2 months + iron chelator (Deferasirox) 1 Yessine Amri
-/. - c.1765C>T r.(?) p.(Pro589Ser) Unknown - benign g.133494354C>T g.133775510C>T - - TF_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2012G>A r.(?) p.(Gly671Glu) Parent #1 - pathogenic g.133496032G>A g.133777188G>A - - TF_000014 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121918677 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-?/. - c.2012G>A r.(?) p.(Gly671Glu) Unknown - likely benign g.133496032G>A - TF(NM_001354703.1):c.1880G>A (p.G627E) - TF_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 16i c.2062+20T>G r.spl? p.(=) Paternal (confirmed) - likely pathogenic g.133496102T>G g.133777258T>G - - TF_000004 not in 100 control chromosomes Pending - - Germline - - - 0 - DNA SEQ Peripheral blood - atransferrinemia - - - F no Spain - - 0 - - 1 Mayka Sanchez
?/. 17 c.*53A>G r.(*53a>g) p.(=) Paternal (confirmed) - VUS g.133497517A>G g.133778673A>G - - TF_000002 - Pending - - Germline - - - 0 - DNA SEQ Peripheral blood - atransferrinemia - - - M ? Germany - - 0 - - 1 Mayka Sanchez
Legend   How to query