All transcript variants in gene KLHL40

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.

48 entries on 1 page. Showing entries 1 - 48.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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 pathogenic r.(?) p.(Gln16*) g.42727156C>T g.42685664C>T - - KLHL40_000025 - PubMed: Todd 2015 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
+/+ 1 c.100G>C - r.(?) p.(Asp34His) g.42727210G>C g.42685718G>C - - KLHL40_000001 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
+/+ 1 c.134delC - r.(?) p.(Pro45Argfs*19) g.42727244delC g.42685752delC - - KLHL40_000002 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
?/. - c.238G>C VUS r.(?) p.(Asp80His) g.42727348G>C - KLHL40(NM_152393.3):c.238G>C (p.D80H) - KLHL40_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/+ 1 c.257T>C - r.(?) p.(Leu86Pro) g.42727367T>C g.42685875T>C - - KLHL40_000017 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
+/+ 1 c.270C>G - r.(?) p.(Tyr90*) g.42727380C>G g.42685888C>G - - KLHL40_000003 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
?/. - c.313T>C VUS r.(?) p.(Phe105Leu) g.42727423T>C - KLHL40(NM_152393.3):c.313T>C (p.(Phe105Leu)) - KLHL40_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.360C>A pathogenic r.(?) p.(Cys120*) g.42727470C>A - KLHL40(NM_152393.3):c.360C>A (p.C120*) - KLHL40_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/+ 1 c.581T>A - r.(?) p.(Val194Glu) g.42727691T>A g.42686199T>A - - KLHL40_000004 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
-?/. - c.600G>A likely benign r.(?) p.(=) g.42727710G>A - KLHL40(NM_152393.3):c.600G>A (p.R200=) - KLHL40_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/+? 1 c.601T>C - r.(?) p.(Trp201Arg) g.42727711T>C g.42686219T>C - - KLHL40_000026 - - - - Germline - - - 0 - Tom Winder
+/+ 1 c.602G>A - r.(?) p.(Trp201*) g.42727712G>A g.42686220G>A - - KLHL40_000006 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
+/+ 1 c.602G>T - r.(?) p.(Trp201Leu) g.42727712G>T g.42686220G>T - - KLHL40_000005 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
+/+ 1 c.790delC - r.(?) p.(Arg264Alafs*59) g.42727900delC g.42686408delC - - KLHL40_000007 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
?/? 1 c.931C>A - r.(?) p.(Arg311Ser) g.42728041C>A g.42686549C>A - - KLHL40_000028 - PubMed: Todd 2015 - - Germline yes - - 0 - Gianina Ravenscroft & Nigel Laing
+/+ 1 c.932G>T - r.(?) p.(Arg311Leu) g.42728042G>T g.42686550G>T - - KLHL40_000008 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
-/. 1 c.1034A>G - r.(?) p.(Asn345Ser) g.42728144A>G - - - KLHL40_000033 - - - rs6805421 Unknown ? 0.8 controls - 0 - Florian Erger
+/? 2 c.1190C>T - r.(?) p.(Pro397Leu) g.42729671C>T g.42688179C>T - - KLHL40_000009 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
+/+ 2 c.1270_1272delinsAGATCAAGGT - r.(?) p.(Asp424Argfs*23) g.42729751_42729753delinsAGATCAAGGT g.42688259_42688261delinsAGATCAAGGT - - KLHL40_000010 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
+/+ 2 c.1281_1294del - r.(?) p.(Cys428Hisfs*12) g.42729762_42729775del g.42688270_42688283del 1281_1294delCTGCCTGGACTCGG - KLHL40_000011 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
+/+ 3 c.1364A>G - r.(?) p.(His455Arg) g.42730152A>G g.42688660A>G - - KLHL40_000012 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
+/+ 3 c.1405G>T - r.(?) p.(Gly469Cys) g.42730193G>T g.42688701G>T - - KLHL40_000013 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
+/+ 3 c.1405G>T - r.(?) p.(Gly469Cys) g.42730193G>T g.42688701G>T - - KLHL40_000013 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
+?/+? 3i c.1421+1G>T - r.spl p.? g.42730210G>T g.42688718G>T - - KLHL40_000027 - - - - Germline - - - 0 - Tom Winder
+/+ 4 c.1516A>C - r.(?) p.(Thr506Pro) g.42730455A>C g.42688963A>C - - KLHL40_000022 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
+/+ 4 c.1582G>A - r.(?) p.(Glu528Lys) g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
+/+ 4 c.1582G>A - r.(?) p.(Glu528Lys) g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
+/+ 4 c.1582G>A - r.(?) p.(Glu528Lys) g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
+/+ 4 c.1582G>A - r.(?) p.(Glu528Lys) g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
+/+ 4 c.1582G>A - r.(?) p.(Glu528Lys) g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
+/+ 4 c.1582G>A - r.(?) p.(Glu528Lys) g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
+/+ 4 c.1582G>A - r.(?) p.(Glu528Lys) g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
+/+ 4 c.1582G>A - r.(?) p.(Glu528Lys) g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
+/+ 4 c.1582G>A - r.(?) p.(Glu528Lys) g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
+/+ 4 c.1582G>A - r.(?) p.(Glu528Lys) g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
+/+ 4 c.1582G>A - r.(?) p.(Glu528Lys) g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
+/+ 4 c.1582G>A - r.(?) p.(Glu528Lys) g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
+/+ 4 c.1582G>A - r.(?) p.(Glu528Lys) g.42730521G>A g.42689029G>A - - KLHL40_000024 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
+/+ 4 c.1582G>A - r.(?) p.(Glu528Lys) g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
+/+ 4 c.1582G>A - r.(?) p.(Glu528Lys) g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
+/+ 4i c.1608-1G>A - r.spl p.? g.42732350G>A g.42690858G>A - - KLHL40_000015 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
+/+ 5 c.1612G>C - r.(?) p.(Ala538Pro) g.42732355G>C g.42690863G>C - - KLHL40_000016 - PubMed: Ravenscroft 2013 - - Germline - - - 0 - Gianina Ravenscroft & Nigel Laing
-?/. - c.1650C>T likely benign r.(?) p.(=) g.42732393C>T - KLHL40(NM_152393.3):c.1650C>T (p.L550=) - HHATL_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1738C>A likely benign r.(?) p.(Leu580Ile) g.42732481C>A - KLHL40(NM_152393.3):c.1738C>A (p.L580I) - KLHL40_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/-? 6 c.1762G>A - r.(?) p.(Glu588Lys) 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 & Nigel Laing
?/. - c.1792C>G VUS r.(?) p.(Arg598Gly) g.42733411C>G - KLHL40(NM_152393.3):c.1792C>G (p.R598G) - KLHL40_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. 6 c.1849T>C - r.(?) p.(Cys617Arg) g.42733468T>C - - - KLHL40_000034 - - - rs123509 Unknown ? 0.85 controls - 0 - Florian Erger
?/. - c.*1131T>C VUS r.(=) p.(=) g.42734616T>C - HHATL(NM_020707.3):c.1343A>G (p.(Asn448Ser)) - HHATL_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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