Unique variants in gene KLHL13

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

15 entries on 1 page. Showing entries 1 - 15.
Legend  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.-55638A>G r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-55602G>A r.(?) p.(=) - likely benign g.117162393C>T - KLHL13(NM_001168302.1):c.44G>A (p.R15H) - chrX_016074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-55597C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.337G>T r.(?) p.(Ala113Ser) - 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 - - - - - VKGL-NL_Leiden
?/. 1 - c.500C>T r.(?) p.(Thr167Met) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.555G>A r.(=) p.(=) - VUS g.117053499C>T g.117919536C>T V185V - KLHL13_000009 recurrent, found 8 times PubMed: Tarpey 2009 - - Germline - 8/208 cases - - - Lucy Raymond
-?/. 1 - c.675A>G r.(?) p.(Ala225=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.734C>G r.(?) p.(Ser245Cys) - VUS g.117043896G>C g.117909933G>C - - KLHL13_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.782C>G r.(?) p.(Thr261Ser) - 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 - - - - - VKGL-NL_Leiden
?/. 1 - c.893C>T r.(?) p.(Thr298Met) - 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 - - - - - VKGL-NL_Leiden
?/. 1 - c.995G>A r.(?) p.(Arg332Lys) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1001C>T r.(?) p.(Ala334Val) - 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 - - - - - VKGL-NL_Leiden
?/. 2 - c.1366+142A>G r.(=) p.(=) - VUS g.117043122T>C g.117909159T>C - - KLHL13_000001 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1866G>C r.(=) p.(=) - VUS g.117032973C>G g.117899010C>G L622L - KLHL13_000008 recurrent, found 12 times PubMed: Tarpey 2009 - - Germline - 12/208 cases - - - Lucy Raymond
?/. 1 - c.1934C>T r.(?) p.(Ser645Leu) - 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 - - - - - VKGL-NL_Leiden
Legend