All variants in the KLHL40 gene

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_152393.3 transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
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Effect     

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.46C>T r.(?) p.(Gln16*) - pathogenic g.42727156C>T g.42685664C>T - - KLHL40_000025 - PubMed: Todd 2015 - - Germline - - - 0 - Gianina Ravenscroft
+/+ 1 c.100G>C r.(?) p.(Asp34His) - pathogenic g.42727210G>C g.42685718G>C - - KLHL40_000001 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
+/+ 1 c.134del r.(?) p.(Pro45Argfs*19) - pathogenic g.42727244del g.42685752del - - KLHL40_000002 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
?/. - c.238G>C r.(?) p.(Asp80His) - VUS g.42727348G>C g.42685856G>C KLHL40(NM_152393.3):c.238G>C (p.D80H) - KLHL40_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 1 c.257T>C r.(?) p.(Leu86Pro) - pathogenic g.42727367T>C g.42685875T>C - - KLHL40_000017 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
+/+ 1 c.270C>G r.(?) p.(Tyr90*) - pathogenic g.42727380C>G g.42685888C>G - - KLHL40_000003 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
?/. - c.313T>C r.(?) p.(Phe105Leu) - VUS g.42727423T>C g.42685931T>C KLHL40(NM_152393.3):c.313T>C (p.(Phe105Leu)) - KLHL40_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.360C>A r.(?) p.(Cys120Ter) - pathogenic g.42727470C>A g.42685978C>A KLHL40(NM_152393.3):c.360C>A (p.C120*) - KLHL40_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/+ 1 c.581T>A r.(?) p.(Val194Glu) - pathogenic g.42727691T>A g.42686199T>A - - KLHL40_000004 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
-?/. - c.600G>A r.(?) p.(Arg200=) - likely benign g.42727710G>A g.42686218G>A KLHL40(NM_152393.3):c.600G>A (p.R200=) - KLHL40_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/+? 1 c.601T>C r.(?) p.(Trp201Arg) - likely pathogenic g.42727711T>C g.42686219T>C - - KLHL40_000026 - - - - Germline - - - 0 - Tom Winder
+/+ 1 c.602G>A r.(?) p.(Trp201*) - pathogenic g.42727712G>A g.42686220G>A - - KLHL40_000006 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
+/. - c.602G>A r.(?) p.(Trp201*) ACMG pathogenic (recessive) g.42727712G>A g.42686220G>A - - KLHL40_000006 - Ravenscroft 2020, submitted - - Germline - - - 0 - Gianina Ravenscroft
+/+ 1 c.602G>T r.(?) p.(Trp201Leu) - pathogenic g.42727712G>T g.42686220G>T - - KLHL40_000005 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
-?/. - c.648G>T r.(?) p.(Ala216=) - likely benign g.42727758G>T g.42686266G>T KLHL40(NM_152393.3):c.648G>T (p.A216=) - KLHL40_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+ 1 c.790del r.(?) p.(Arg264Alafs*59) - pathogenic g.42727900del g.42686408del - - KLHL40_000007 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
?/? 1 c.931C>A r.(?) p.(Arg311Ser) - VUS g.42728041C>A g.42686549C>A - - KLHL40_000028 - PubMed: Todd 2015 - - Germline yes - - 0 - Gianina Ravenscroft
+/+ 1 c.932G>T r.(?) p.(Arg311Leu) - pathogenic g.42728042G>T g.42686550G>T - - KLHL40_000008 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
-/. 1 c.1034A>G r.(?) p.(Asn345Ser) - benign g.42728144A>G g.42686652A>G - - KLHL40_000033 - - - rs6805421 Unknown ? 0.8 controls - 0 - Florian Erger
+/? 2 c.1190C>T r.(?) p.(Pro397Leu) - pathogenic g.42729671C>T g.42688179C>T - - KLHL40_000009 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
+/+ 2 c.1270_1272delinsAGATCAAGGT r.(?) p.(Asp424Argfs*23) - pathogenic g.42729751_42729753delinsAGATCAAGGT g.42688259_42688261delinsAGATCAAGGT - - KLHL40_000010 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
+/+ 2 c.1281_1294del r.(?) p.(Cys428Hisfs*12) - pathogenic g.42729762_42729775del g.42688270_42688283del 1281_1294delCTGCCTGGACTCGG - KLHL40_000011 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
+/+ 3 c.1364A>G r.(?) p.(His455Arg) - pathogenic g.42730152A>G g.42688660A>G - - KLHL40_000012 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
+/+ 3 c.1405G>T r.(?) p.(Gly469Cys) - pathogenic g.42730193G>T g.42688701G>T - - KLHL40_000013 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
+/+ 3 c.1405G>T r.(?) p.(Gly469Cys) - pathogenic g.42730193G>T g.42688701G>T - - KLHL40_000013 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
+?/+? 3i c.1421+1G>T r.spl p.? - likely pathogenic g.42730210G>T g.42688718G>T - - KLHL40_000027 - - - - Germline - - - 0 - Tom Winder
-?/. - c.1421+9G>A r.(=) p.(=) - likely benign g.42730218G>A - KLHL40(NM_152393.3):c.1421+9G>A - HHATL_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1495G>A r.(?) p.(Ala499Thr) - likely benign g.42730434G>A g.42688942G>A - - KLHL40_000038 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs148921329 Germline - 1/2795 individuals - 0 - Mohammed Faruq
+/+ 4 c.1516A>C r.(?) p.(Thr506Pro) - pathogenic g.42730455A>C g.42688963A>C - - KLHL40_000022 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
+/+ 4 c.1582G>A r.(?) p.(Glu528Lys) - pathogenic g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
+/+ 4 c.1582G>A r.(?) p.(Glu528Lys) - pathogenic g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
+/+ 4 c.1582G>A r.(?) p.(Glu528Lys) - pathogenic g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
+/+ 4 c.1582G>A r.(?) p.(Glu528Lys) - pathogenic g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
+/+ 4 c.1582G>A r.(?) p.(Glu528Lys) - pathogenic g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
+/+ 4 c.1582G>A r.(?) p.(Glu528Lys) - pathogenic g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
+/+ 4 c.1582G>A r.(?) p.(Glu528Lys) - pathogenic g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
+/+ 4 c.1582G>A r.(?) p.(Glu528Lys) - pathogenic g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
+/+ 4 c.1582G>A r.(?) p.(Glu528Lys) - pathogenic g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
+/+ 4 c.1582G>A r.(?) p.(Glu528Lys) - pathogenic g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
+/+ 4 c.1582G>A r.(?) p.(Glu528Lys) - pathogenic g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
+/+ 4 c.1582G>A r.(?) p.(Glu528Lys) - pathogenic g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
+/+ 4 c.1582G>A r.(?) p.(Glu528Lys) - pathogenic g.42730521G>A g.42689029G>A - - KLHL40_000024 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
+/+ 4 c.1582G>A r.(?) p.(Glu528Lys) - pathogenic g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
+/+ 4 c.1582G>A r.(?) p.(Glu528Lys) - pathogenic g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
+/+ 4i c.1608-1G>A r.spl p.? - pathogenic g.42732350G>A g.42690858G>A - - KLHL40_000015 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
+/+ 5 c.1612G>C r.(?) p.(Ala538Pro) - pathogenic g.42732355G>C g.42690863G>C - - KLHL40_000016 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
-?/. - c.1650C>T r.(?) p.(Leu550=) - likely benign g.42732393C>T g.42690901C>T KLHL40(NM_152393.3):c.1650C>T (p.L550=) - HHATL_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1709C>T r.(?) p.(Thr570Met) - VUS g.42732452C>T g.42690960C>T - - KLHL40_000039 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs139268932 Germline - 1/2795 individuals - 0 - Mohammed Faruq
-?/. - c.1738C>A r.(?) p.(Leu580Ile) - likely benign g.42732481C>A g.42690989C>A KLHL40(NM_152393.3):c.1738C>A (p.L580I) - KLHL40_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/-? 6 c.1762G>A r.(?) p.(Glu588Lys) - pathogenic g.42733381G>A g.42691889G>A - - KLHL40_000023 variant classification changed based on frequency an present of unaffected homozygous individual (ExAC database) PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft
?/. - c.1792C>G r.(?) p.(Arg598Gly) - VUS g.42733411C>G g.42691919C>G KLHL40(NM_152393.3):c.1792C>G (p.R598G) - KLHL40_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. 6 c.1849T>C r.(?) p.(Cys617Arg) - benign g.42733468T>C g.42691976T>C - - KLHL40_000034 - - - rs123509 Unknown ? 0.85 controls - 0 - Florian Erger
?/. - c.*1131T>C r.(=) p.(=) - VUS g.42734616T>C g.42693124T>C HHATL(NM_020707.3):c.1343A>G (p.(Asn448Ser)) - HHATL_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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