Full data view for gene XKRX

Information The variants shown are described using the NM_212559.2 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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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.89G>A r.(?) p.(Arg30Gln) Parent #1 - VUS g.100183205C>T g.100928216C>T 128G>A R43Q - XKRX_000023 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
-?/. - c.271G>A r.(?) p.(Asp91Asn) Maternal (confirmed) - likely benign g.100183023C>T g.100928034C>T - - XKRX_000009 present in maternal grandmother PubMed: Bosch 2016, Journal: Bosch 2016 - - Germline no - - - - DNA SEQ-NG - - CVI, ID - PubMed: Bosch 2016, Journal: Bosch 2016 - M - Netherlands - - - - - 1 Danielle Bosch
?/. - c.335+232C>G r.(=) p.(=) Maternal (inferred) - VUS g.100182727G>C g.100927738G>C - - XKRX_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.335+232C>G r.(=) p.(=) Maternal (inferred) - VUS g.100182727G>C g.100927738G>C - - XKRX_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.336-177T>A r.(=) p.(=) Maternal (inferred) - VUS g.100178227A>T g.100923238A>T - - XKRX_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.336-177T>A r.(=) p.(=) Maternal (inferred) - VUS g.100178227A>T g.100923238A>T - - XKRX_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.557A>G r.(?) p.(Tyr186Cys) Parent #1 - VUS g.100177829T>C g.100922840T>C c.596A>G Y199C - XKRX_000020 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.557A>G r.(?) p.(Tyr186Cys) Unknown - likely benign g.100177829T>C g.100922840T>C XKRX(NM_212559.2):c.557A>G (p.(Tyr186Cys)) - XKRX_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.568G>A r.(?) p.(Val190Met) Unknown - VUS g.100177818C>T g.100922829C>T XKRX(NM_212559.2):c.568G>A (p.V190M) - XKRX_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.604+2559_604+2560insAT r.(=) p.(=) Maternal (inferred) - VUS g.100175223_100175224insTA g.100920234_100920235insTA - - XKRX_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.604+2559_604+2560insAT r.(=) p.(=) Maternal (inferred) - VUS g.100175223_100175224insTA g.100920234_100920235insTA - - XKRX_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.604+2559_604+2560insAT r.(=) p.(=) Maternal (inferred) - VUS g.100175223_100175224insTA g.100920234_100920235insTA - - XKRX_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.604+2559_604+2560insAT r.(=) p.(=) Maternal (inferred) - VUS g.100175223_100175224insTA g.100920234_100920235insTA - - XKRX_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.740G>A r.(?) p.(Arg247Gln) Unknown - VUS g.100169937C>T g.100914948C>T XKRX(NM_212559.2):c.740G>A (p.(Arg247Gln)) - XKRX_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.761G>A r.(?) p.(Arg254His) Unknown - VUS g.100169916C>T g.100914927C>T XKRX(NM_212559.2):c.761G>A (p.R254H) - XKRX_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.778C>G r.(?) p.(Leu260Val) Unknown - VUS g.100169899G>C - XKRX(NM_212559.2):c.778C>G (p.(Arg260Gly)) - XKRX_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.914G>A r.(?) p.(Arg305Gln) Unknown - likely benign g.100169763C>T g.100914774C>T XKRX(NM_212559.2):c.914G>A (p.R305Q) - XKRX_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.956A>G r.(?) p.(Tyr319Cys) Parent #1 - VUS g.100169721T>C g.100914732T>C 995A>G Y332C - XKRX_000021 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.1094T>C r.(?) p.(Leu365Ser) Unknown - likely benign g.100169583A>G g.100914594A>G XKRX(NM_212559.2):c.1094T>C (p.L365S) - XKRX_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1120G>A r.(?) p.(Val374Met) Unknown - likely benign g.100169557C>T g.100914568C>T XKRX(NM_212559.2):c.1120G>A (p.V374M) - XKRX_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1138C>A r.(?) p.(His380Asn) Unknown - likely benign g.100169539G>T - XKRX(NM_212559.2):c.1138C>A (p.H380N) - XKRX_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1173T>C r.(?) p.(Tyr391=) Unknown - likely benign g.100169504A>G g.100914515A>G XKRX(NM_212559.2):c.1173T>C (p.Y391=) - XKRX_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1176G>A r.(=) p.(=) Parent #1 - likely benign g.100169501C>T g.100914512C>T 1215G>A L405L - XKRX_000024 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.1226G>A r.(?) p.(Arg409His) Maternal (inferred) - VUS g.100169451C>T g.100914462C>T - - XKRX_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1226G>A r.(?) p.(Arg409His) Maternal (inferred) - VUS g.100169451C>T g.100914462C>T - - XKRX_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1226G>A r.(?) p.(Arg409His) Parent #1 - VUS g.100169451C>T g.100914462C>T 1265G>A R422H - XKRX_000011 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 3 Lucy Raymond
-?/. - c.1226G>A r.(?) p.(Arg409His) Unknown - likely benign g.100169451C>T g.100914462C>T XKRX(NM_212559.2):c.1226G>A (p.(Arg409His)) - XKRX_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1248A>G r.(=) p.(=) Parent #1 - likely benign g.100169429T>C g.100914440T>C 1287A>G V429V - XKRX_000022 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.1258C>A r.(?) p.(Leu420Ile) Unknown - VUS g.100169419G>T g.100914430G>T XKRX(NM_212559.2):c.1258C>A (p.(Leu420Ile)) - XKRX_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1285C>T r.(?) p.(Pro429Ser) Unknown - likely benign g.100169392G>A - XKRX(NM_212559.2):c.1285C>T (p.P429S) - XKRX_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1288C>T r.(?) p.(Arg430Trp) Unknown - likely benign g.100169389G>A g.100914400G>A XKRX(NM_212559.2):c.1288C>T (p.R430W) - XKRX_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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