Full data view for gene KLHL13

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

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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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     

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Consanguinity     

Country     

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Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-55638A>G likely benign r.(?) p.(=) Unknown g.117162429T>C - KLHL13(NM_001168302.1):c.8A>G (p.H3R) - KLHL13_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-55597C>T VUS r.(?) p.(=) Unknown g.117162388G>A - KLHL13(NM_001168302.1):c.49C>T (p.R17*) - KLHL13_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.337G>T likely benign r.(?) p.(Ala113Ser) Unknown g.117054237C>A - KLHL13(NM_001168299.1):c.346G>T (p.(Ala116Ser)) - KLHL13_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.500C>T VUS r.(?) p.(Thr167Met) Unknown g.117053554G>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 g.117053499C>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.734C>G VUS r.(?) p.(Ser245Cys) Unknown g.117043896G>C - - - KLHL13_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.782C>G likely benign r.(?) p.(Thr261Ser) Unknown g.117043848G>C - KLHL13(NM_001168299.1):c.791C>G (p.(Thr264Ser)) - KLHL13_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.995G>A VUS r.(?) p.(Arg332Lys) Unknown g.117043635C>T - KLHL13(NM_033495.3):c.995G>A (p.R332K) - KLHL13_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1001C>T VUS r.(?) p.(Ala334Val) Unknown g.117043629G>A - KLHL13(NM_001168299.1):c.1010C>T (p.(Ala337Val)) - KLHL13_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1366+142A>G - - p.(=) Maternal (inferred) 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 - - p.(=) Maternal (inferred) 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 g.117032973C>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
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