Unique variants in the KLHL4 gene

Information The variants shown are described using the NM_019117.4 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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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.122A>G r.(?) p.(Tyr41Cys) - likely benign g.86773018A>G - KLHL4(NM_019117.5):c.122A>G (p.Y41C) - KLHL4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 1 c.211C>A r.(?) p.(His71Asn) - VUS g.86773107C>A g.87518104C>A H71N - KLHL4_000021 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.221_226del r.(?) p.(Leu74_Ala75del) - VUS g.86773117_86773122del g.87518114_87518119del KLHL4(NM_019117.4):c.219_224del (p.?) - KLHL4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.286C>A r.(?) p.(Leu96Met) - likely benign g.86773182C>A - KLHL4(NM_019117.4):c.286C>A (p.L96M) - KLHL4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.479A>G r.(?) p.(His160Arg) - likely benign g.86868936A>G - KLHL4(NM_019117.4):c.479A>G (p.H160R) - KLHL4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.746A>G r.(?) p.(Glu249Gly) - VUS g.86872953A>G g.87617950A>G KLHL4(NM_019117.4):c.746A>G (p.(Glu249Gly)) - KLHL4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 3 5 c.1062G>T r.(?) p.(=) - likely benign, VUS g.86877348G>T g.87622348G>T G354G - KLHL4_000011 recurrent, found 38 times PubMed: Tarpey 2009 - - Germline - 38/208 cases - - - Yu Sun, Lucy Raymond
?/. 2 - c.1325-86A>G r.(=) p.(=) - VUS g.86887124A>G g.87632124A>G - - KLHL4_000003 - - - - Germline - - - - - Yu Sun
-?/., ?/. 3 7 c.1359C>T r.(?) p.(=) - likely benign, VUS g.86887244C>T g.87632244C>T T453T - KLHL4_000005 recurrent, found 140 times PubMed: Tarpey 2009 - - Germline - 140/208 cases - - - Yu Sun, Lucy Raymond
-?/. 1 - c.1414G>A r.(?) p.(Ala472Thr) - likely benign g.86887299G>A g.87632299G>A KLHL4(NM_019117.4):c.1414G>A (p.(Ala472Thr)) - KLHL4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1532C>T r.(?) p.(Thr511Ile) - VUS g.86887417C>T g.87632417C>T KLHL4(NM_019117.4):c.1532C>T (p.T511I) - KLHL4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.1549+173A>G r.(=) p.(=) - VUS g.86887607A>G g.87632607A>G - - KLHL4_000008 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1661C>A r.(?) p.(Ala554Asp) - VUS g.86888860C>A g.87633860C>A KLHL4(NM_019117.4):c.1661C>A (p.A554D) - KLHL4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1859A>T r.(?) p.(Tyr620Phe) - VUS g.86890709A>T g.87635709A>T KLHL4(NM_019117.4):c.1859A>T (p.(Tyr620Phe)) - KLHL4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2097+6C>T r.(=) p.(=) - likely benign g.86919941C>T g.87664941C>T KLHL4(NM_019117.4):c.2097+6C>T (p.(=)) - KLHL4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 4 - c.*562dup r.(=) p.(=) - VUS g.86922096dup g.87667096dup - - KLHL4_000001, KLHL4_000014 - - - - Germline - - - - - Yu Sun
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