Full data view for gene KLHL13

Information The variants shown are described using the NM_033495.3 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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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     

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Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-55638A>G r.(?) p.(=) Unknown - likely benign g.117162429T>C g.118028466T>C KLHL13(NM_001168302.1):c.8A>G (p.H3R) - KLHL13_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-55602G>A r.(?) p.(=) Unknown - likely benign g.117162393C>T - KLHL13(NM_001168302.1):c.44G>A (p.R15H) - chrX_016074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-55597C>T r.(?) p.(=) Unknown - VUS g.117162388G>A g.118028425G>A KLHL13(NM_001168302.1):c.49C>T (p.R17*) - KLHL13_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.337G>T r.(?) p.(Ala113Ser) Unknown - likely benign g.117054237C>A g.117920274C>A KLHL13(NM_001168299.1):c.346G>T (p.(Ala116Ser)) - KLHL13_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.500C>T r.(?) p.(Thr167Met) Unknown - VUS g.117053554G>A g.117919591G>A KLHL13(NM_033495.3):c.500C>T (p.T167M) - KLHL13_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.555G>A r.(=) p.(=) Parent #1 - VUS g.117053499C>T g.117919536C>T V185V - KLHL13_000009 recurrent, found 8 times PubMed: Tarpey 2009 - - Germline - 8/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 8 Lucy Raymond
-?/. - c.675A>G r.(?) p.(Ala225=) Unknown - likely benign g.117043955T>C g.117909992T>C KLHL13(NM_033495.3):c.675A>G (p.A225=) - KLHL13_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.734C>G r.(?) p.(Ser245Cys) Unknown - VUS g.117043896G>C g.117909933G>C - - KLHL13_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.782C>G r.(?) p.(Thr261Ser) Unknown - likely benign g.117043848G>C g.117909885G>C KLHL13(NM_001168299.1):c.791C>G (p.(Thr264Ser)) - KLHL13_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.893C>T r.(?) p.(Thr298Met) Unknown - VUS g.117043737G>A g.117909774G>A KLHL13(NM_001168299.1):c.902C>T (p.(Thr301Met)) - KLHL13_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.995G>A r.(?) p.(Arg332Lys) Unknown - VUS g.117043635C>T g.117909672C>T KLHL13(NM_033495.3):c.995G>A (p.R332K) - KLHL13_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1001C>T r.(?) p.(Ala334Val) Unknown - VUS g.117043629G>A g.117909666G>A KLHL13(NM_001168299.1):c.1010C>T (p.(Ala337Val)) - KLHL13_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1366+142A>G r.(=) p.(=) Maternal (inferred) - VUS g.117043122T>C g.117909159T>C - - KLHL13_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1366+142A>G r.(=) p.(=) Maternal (inferred) - VUS g.117043122T>C g.117909159T>C - - KLHL13_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1866G>C r.(=) p.(=) Parent #1 - VUS g.117032973C>G g.117899010C>G L622L - KLHL13_000008 recurrent, found 12 times PubMed: Tarpey 2009 - - Germline - 12/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 12 Lucy Raymond
?/. - c.1934C>T r.(?) p.(Ser645Leu) Unknown - VUS g.117032905G>A g.117898942G>A KLHL13(NM_001168299.1):c.1943C>T (p.(Ser648Leu)) - KLHL13_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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