Full data view for gene DAK

NOTE: gene name changed from DAK to TKFC
Information The variants shown are described using the NM_015533.3 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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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.-33272T>C r.(?) p.(=) Unknown - VUS g.61067639T>C - DDB1(NM_001923.5):c.3392A>G (p.K1131R) - DAK_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-33254G>A r.(?) p.(=) Unknown - VUS g.61067657G>A - DDB1(NM_001923.5):c.3374C>T (p.T1125I) - DAK_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-33245C>T r.(?) p.(=) Unknown - VUS g.61067666C>T - DDB1(NM_001923.5):c.3365G>A (p.(Arg1122Gln)) - DAK_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-32499G>A r.(?) p.(=) Unknown - likely benign g.61068412G>A - DDB1(NM_001923.5):c.3216-8C>T - DAK_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-30862C>A r.(?) p.(=) Unknown - likely benign g.61070049C>A - DDB1(NM_001923.5):c.3112+5G>T - DAK_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-30678G>A r.(?) p.(=) Unknown - likely benign g.61070233G>A - DDB1(NM_001923.5):c.2943-10C>T - DAK_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-29966G>C r.(?) p.(=) Unknown - likely benign g.61070945G>C - DDB1(NM_001923.5):c.2833-318C>G - DAK_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-24410G>A r.(?) p.(=) Unknown - VUS g.61076501G>A - DDB1(NM_001923.4):c.2615C>T (p.(Ser872Phe)) - DAK_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-19862T>C r.(?) p.(=) Unknown - VUS g.61081049T>C - DDB1(NM_001923.4):c.1991A>G (p.(His664Arg)) - DAK_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-19552G>T r.(?) p.(=) Unknown - VUS g.61081359G>T - DDB1(NM_001923.5):c.1836C>A (p.(Phe612Leu)) - DAK_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-19129G>C r.(?) p.(=) Unknown - VUS g.61081782G>C - DDB1(NM_001923.5):c.1587C>G (p.I529M) - DAK_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-19092T>C r.(?) p.(=) Unknown - likely benign g.61081819T>C - DDB1(NM_001923.5):c.1550A>G (p.(Tyr517Cys)) - DAK_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-11052C>A r.(?) p.(=) Unknown - VUS g.61089859C>A - DDB1(NM_001923.5):c.1031G>T (p.(Gly344Val)) - DAK_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-9382G>A r.(?) p.(=) Unknown - likely benign g.61091529G>A - DDB1(NM_001923.4):c.843C>T (p.F281=) - DAK_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-9298C>A r.(?) p.(=) Unknown - VUS g.61091613C>A - DDB1(NM_001923.5):c.763-4G>T - DAK_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-9297C>A r.(?) p.(=) Unknown - VUS g.61091614C>A - DDB1(NM_001923.5):c.763-5G>T - DAK_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-7782T>C r.(?) p.(=) Unknown - VUS g.61093129T>C - - - DAK_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-7745C>T r.(?) p.(=) Unknown - VUS g.61093166C>T - DDB1(NM_001923.5):c.679G>A (p.(Gly227Arg)) - DAK_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-6639C>T r.(?) p.(=) Unknown - likely pathogenic g.61094272C>T g.61326800C>T DDB1(NM_001923.4):c.643G>A (p.(Glu215Lys)) - DDB1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4053G>A r.(?) p.(=) Unknown - VUS g.61096858G>A - DDB1(NM_001923.4):c.526C>T (p.(Pro176Ser)) - CYBASC3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-3867G>A r.(?) p.(=) Unknown - likely pathogenic g.61097044G>A - DDB1(NM_001923.4):c.340C>T (p.(Arg114Cys)) - CYBASC3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.344G>A r.(?) p.(Arg115Gln) Unknown - likely benign g.61106765G>A - TKFC(NM_015533.4):c.344G>A (p.(Arg115Gln)) - CYBASC3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.455G>C r.(?) p.(Arg152Pro) Unknown - VUS g.61106876G>C - TKFC(NM_015533.4):c.455G>C (p.(Arg152Pro)) - CYBASC3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.598G>A r.(?) p.(Val200Ile) Both (homozygous) ACMG VUS g.61109327G>A - - - DAK_000004 heterozygous in father, mother, grandfather and grand mother - - - Germline yes - - - - DNA SEQ-NG White blood cells WES followed by Sanger sequencing OCA1 Familial albinism_F1 - 3-generation family, one affected child (AR), father (carrier), mother (carrier), grandfather (carrier), grandmother (normal), mother's father (carrier), and grandmother (normal) M yes Egypt - - - - - 1 Alaaeldin Fayez
?/. - c.680G>A r.(?) p.(Arg227His) Unknown - VUS g.61109957G>A - DAK(NM_015533.3):c.680G>A (p.(Arg227His)) - CYBASC3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.983-9T>C r.(=) p.(=) Unknown - likely benign g.61111319T>C - TKFC(NM_015533.4):c.983-9T>C - CYBASC3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1228C>T r.(?) p.(Arg410Cys) Unknown - likely benign g.61111733C>T - TKFC(NM_015533.4):c.1228C>T (p.(Arg410Cys)) - CYBASC3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1333G>A r.(?) p.(Gly445Ser) Both (homozygous) - pathogenic (recessive) g.61112824G>A g.61345352G>A - - DAK_000001 - PubMed: Wortmann 2020, Journal: Wortmann 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES MPD Fam2PatII1 PubMed: Wortmann 2020, Journal: Wortmann 2020 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F yes Turkey - - - - - 2 Johan den Dunnen
+/. - c.1333G>A r.(?) p.(Gly445Ser) Both (homozygous) - pathogenic (recessive) g.61112824G>A g.61345352G>A - - DAK_000001 - PubMed: Wortmann 2020, Journal: Wortmann 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES MPD Fam2PatII2 PubMed: Wortmann 2020, Journal: Wortmann 2020 - M yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.1628G>T r.(?) p.(Arg543Ile) Both (homozygous) - pathogenic (recessive) g.61113875G>T g.61346403G>T - - DAK_000002 - PubMed: Wortmann 2020, Journal: Wortmann 2020 - rs547013163 Germline yes - - - - DNA SEQ, SEQ-NG - WGS MPD Fam1PatII1 PubMed: Wortmann 2020, Journal: Wortmann 2020 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes India Gujarati - - - - 2 Johan den Dunnen
+/. - c.1628G>T r.(?) p.(Arg543Ile) Both (homozygous) - pathogenic (recessive) g.61113875G>T g.61346403G>T - - DAK_000002 - PubMed: Wortmann 2020, Journal: Wortmann 2020 - rs547013163 Germline yes - - - - DNA SEQ, SEQ-NG - WGS MPD Fam1PatII2 PubMed: Wortmann 2020, Journal: Wortmann 2020 - F yes India Gujarati - - - - 1 Johan den Dunnen
?/. - c.*6569G>T r.(=) p.(=) Unknown - VUS g.61120544G>T - CYB561A3(NM_153611.4):c.461C>A (p.(Pro154His)) - CYBASC3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*17989T>A r.(=) p.(=) Unknown - likely benign g.61131964T>A - TMEM138(NM_016464.4):c.102T>A (p.T34=), TMEM138(NM_016464.5):c.102T>A (p.T34=) - CYBASC3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*17989T>A r.(=) p.(=) Unknown - likely benign g.61131964T>A - TMEM138(NM_016464.4):c.102T>A (p.T34=), TMEM138(NM_016464.5):c.102T>A (p.T34=) - CYBASC3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*19416G>A r.(=) p.(=) Unknown - benign g.61133391G>A g.61365919G>A TMEM138(NM_016464.5):c.129-126G>A - TMEM138_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*19674G>A r.(=) p.(=) Unknown - benign g.61133649G>A g.61366177G>A TMEM138(NM_016464.4):c.261G>A (p.V87=), TMEM138(NM_016464.5):c.261G>A (p.V87=) - TMEM138_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*19674G>A r.(=) p.(=) Unknown - benign g.61133649G>A g.61366177G>A TMEM138(NM_016464.4):c.261G>A (p.V87=), TMEM138(NM_016464.5):c.261G>A (p.V87=) - TMEM138_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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