Full data view for gene TIMM17B

Information The variants shown are described using the NM_005834.3 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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.-8468T>C r.(?) p.(=) Unknown - likely benign g.48763745A>G g.48906468A>G - - SLC35A2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-7412G>A r.(?) p.(=) Unknown - VUS g.48762689C>T g.48905412C>T SLC35A2(NM_001282651.1):c.581G>A (p.R194Q) - SLC35A2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-7401G>C r.(?) p.(=) Unknown - VUS g.48762678C>G g.48905401C>G - - SLC35A2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-7294C>T r.(?) p.(=) Unknown - likely benign g.48762571G>A g.48905294G>A SLC35A2(NM_001282651.1):c.699C>T (p.A233=) - SLC35A2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-7293G>A r.(?) p.(=) Unknown - VUS g.48762570C>T g.48905293C>T - - SLC35A2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-7278C>G r.(?) p.(=) Unknown - VUS g.48762555G>C g.48905278G>C - - TIMM17B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-7270C>T r.(?) p.(=) Unknown - likely benign g.48762547G>A - SLC35A2(NM_001282651.2):c.723C>T (p.S241=) - TIMM17B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-7156del r.(?) p.(=) Unknown - pathogenic g.48762434del g.48905157del SLC35A2(NM_001042498.2):c.753delG (p.W251Cfs*98) - SLC35A2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.-7091G>A r.(?) p.(=) Unknown - pathogenic g.48762368C>T g.48905091C>T SLC35A2(NM_001042498.3):c.818G>A (p.G273D) - SLC35A2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-7081C>T r.(?) p.(=) Unknown - likely benign g.48762358G>A g.48905081G>A SLC35A2(NM_001282651.1):c.912C>T (p.L304=) - TIMM17B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-7065G>A r.(?) p.(=) Unknown - likely pathogenic g.48762342C>T g.48905065C>T - - SLC35A2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-6968G>T r.(?) p.(=) Unknown - VUS g.48762245C>A g.48904968C>A SLC35A2(NM_001282651.1):c.1025G>T (p.R342L) - SLC35A2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-6902A>G r.(?) p.(=) Unknown - VUS g.48762179T>C g.48904902T>C SLC35A2(NM_001282651.1):c.1091A>G (p.Y364C) - SLC35A2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-6870G>A r.(?) p.(=) Unknown - likely benign g.48762147C>T - SLC35A2(NM_001282651.2):c.1123G>A (p.A375T) - TIMM17B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6847C>T r.(?) p.(=) Unknown - likely benign g.48762124G>A g.48904847G>A SLC35A2(NM_001032289.2):c.472C>T (p.R158C) - TIMM17B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-6832C>T r.(?) p.(=) Unknown - VUS g.48762109G>A - SLC35A2(NM_001032289.2):c.487C>T (p.R163C) - TIMM17B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6780C>T r.(?) p.(=) Unknown - likely benign g.48762057G>A g.48904780G>A SLC35A2(NM_001032289.1):c.539C>T (p.(Pro180Leu)) - SLC35A2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-6779G>A r.(?) p.(=) Unknown - likely benign g.48762056C>T - SLC35A2(NM_001282651.1):c.1214G>A (p.R405H) - TIMM17B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6712G>A r.(?) p.(=) Unknown - likely benign g.48761989C>T g.48904712C>T SLC35A2(NM_001032289.2):c.607G>A (p.G203R) - TIMM17B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6707G>C r.(?) p.(=) Unknown - likely benign g.48761984C>G - SLC35A2(NM_001032289.3):c.612G>C (p.G204=) - TIMM17B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5359T>C r.(?) p.(=) Unknown - likely benign g.48760636A>G g.48903359A>G SLC35A2(NM_005660.3):c.*79T>C - TIMM17B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-4740G>A r.(?) p.(=) Unknown - pathogenic g.48760017C>T g.48902740C>T PQBP1(NM_005710.2):c.586C>T (p.R196*) - PQBP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4739G>A r.(?) p.(=) Unknown - likely benign g.48760016C>T g.48902739C>T PQBP1(NM_005710.2):c.585C>T (p.S195=) - TIMM17B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4739G>A r.(?) p.(=) Unknown - likely benign g.48760016C>T g.48902739C>T PQBP1(NM_005710.2):c.585C>T (p.S195=) - TIMM17B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4416C>T r.(?) p.(=) Unknown - VUS g.48759693G>A - PQBP1(NM_005710.2):c.476G>A (p.R159Q) - TIMM17B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4370G>A r.(?) p.(=) Unknown - VUS g.48759647C>T g.48902370C>T PQBP1(NM_005710.2):c.430C>T (p.R144C) - TIMM17B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4337G>A r.(?) p.(=) Unknown - likely benign g.48759614C>T g.48902337C>T PQBP1(NM_001032381.1):c.397C>T (p.(Arg133Trp)) - PQBP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-4281T>C r.(?) p.(=) Unknown - likely benign g.48759558A>G g.48902281A>G PQBP1(NM_005710.2):c.341A>G (p.H114R) - TIMM17B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4000C>T r.(?) p.(=) Unknown - likely benign g.48759277G>A g.48902000G>A PQBP1(NM_005710.2):c.250G>A (p.V84M) - PQBP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-3930G>A r.(?) p.(=) Unknown - likely benign g.48759207C>T g.48901930C>T PQBP1(NM_005710.2):c.180C>T (p.C60=) - TIMM17B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3927G>A r.(?) p.(=) Unknown - benign g.48759204C>T g.48901927C>T PQBP1(NM_005710.2):c.180-3C>T - PQBP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-3204T>C r.(?) p.(=) Unknown - VUS g.48758481A>G - PQBP1(NM_005710.2):c.82A>G (p.I28V) - TIMM17B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-103C>T r.(?) p.(=) Unknown - likely benign g.48755380G>A g.48898097G>A PQBP1(NM_001032383.1):c.-19+4G>A - TIMM17B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.127-320G>T r.(=) p.(=) Unknown - likely benign g.48752704C>A g.48895421C>A TIMM17B(NM_001167947.2):c.207G>T (p.E69D) - TIMM17B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.139C>T r.(?) p.(Arg47Trp) Unknown - likely benign g.48752372G>A g.48895089G>A TIMM17B(NM_001167947.1):c.289C>T (p.(Arg97Trp)) - TIMM17B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.228T>C r.(?) p.(=) Maternal (inferred) - VUS g.48751471A>G g.48894188= - - TIMM17B_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.228T>C r.(?) p.(=) Maternal (inferred) - VUS g.48751471A>G g.48894188= - - TIMM17B_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.228T>C r.(=) p.(=) Parent #1 - likely benign g.48751471A>G g.48894188= I76I - TIMM17B_000001 recurrent, found 77 times PubMed: Tarpey 2009 - - Germline - 77/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 77 Lucy Raymond
Legend   How to query