Unique 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.

33 entries on 1 page. Showing entries 1 - 33.
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Effect     

Reported     

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 1 c.46C>T pathogenic r.(?) p.(Gln16*) g.42727156C>T g.42685664C>T - - KLHL40_000025 - PubMed: Todd 2015 - - Germline - - - - - Gianina Ravenscroft & Nigel Laing
+/+ 1 1 c.100G>C - r.(?) p.(Asp34His) g.42727210G>C g.42685718G>C - - KLHL40_000001 - PubMed: Ravenscroft 2013 - - Germline - - - - - Gianina Ravenscroft & Nigel Laing
+/+ 1 1 c.134delC - r.(?) p.(Pro45Argfs*19) g.42727244delC g.42685752delC - - KLHL40_000002 - PubMed: Ravenscroft 2013 - - Germline - - - - - Gianina Ravenscroft & Nigel Laing
?/. 1 - 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 - - - - - VKGL-NL
+/+ 1 1 c.257T>C - r.(?) p.(Leu86Pro) g.42727367T>C g.42685875T>C - - KLHL40_000017 - PubMed: Ravenscroft 2013 - - Germline - - - - - Gianina Ravenscroft & Nigel Laing
+/+ 1 1 c.270C>G - r.(?) p.(Tyr90*) g.42727380C>G g.42685888C>G - - KLHL40_000003 - PubMed: Ravenscroft 2013 - - Germline - - - - - Gianina Ravenscroft & Nigel Laing
?/. 1 - 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
+/. 1 - 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 - - - - - VKGL-NL
+/+ 1 1 c.581T>A - r.(?) p.(Val194Glu) g.42727691T>A g.42686199T>A - - KLHL40_000004 - PubMed: Ravenscroft 2013 - - Germline - - - - - Gianina Ravenscroft & Nigel Laing
-?/. 1 - 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 1 c.601T>C - r.(?) p.(Trp201Arg) g.42727711T>C g.42686219T>C - - KLHL40_000026 - - - - Germline - - - - - Tom Winder
+/+ 1 1 c.602G>A - r.(?) p.(Trp201*) g.42727712G>A g.42686220G>A - - KLHL40_000006 - PubMed: Ravenscroft 2013 - - Germline - - - - - Gianina Ravenscroft & Nigel Laing
+/+ 1 1 c.602G>T - r.(?) p.(Trp201Leu) g.42727712G>T g.42686220G>T - - KLHL40_000005 - PubMed: Ravenscroft 2013 - - Germline - - - - - Gianina Ravenscroft & Nigel Laing
+/+ 1 1 c.790delC - r.(?) p.(Arg264Alafs*59) g.42727900delC g.42686408delC - - KLHL40_000007 - PubMed: Ravenscroft 2013 - - Germline - - - - - Gianina Ravenscroft & Nigel Laing
?/? 1 1 c.931C>A - r.(?) p.(Arg311Ser) g.42728041C>A g.42686549C>A - - KLHL40_000028 - PubMed: Todd 2015 - - Germline yes - - - - Gianina Ravenscroft & Nigel Laing
+/+ 1 1 c.932G>T - r.(?) p.(Arg311Leu) g.42728042G>T g.42686550G>T - - KLHL40_000008 - PubMed: Ravenscroft 2013 - - Germline - - - - - Gianina Ravenscroft & Nigel Laing
-/. 1 1 c.1034A>G - r.(?) p.(Asn345Ser) g.42728144A>G - - - KLHL40_000033 - - - rs6805421 Unknown ? 0.8 controls - - - Florian Erger
+/? 1 2 c.1190C>T - r.(?) p.(Pro397Leu) g.42729671C>T g.42688179C>T - - KLHL40_000009 - PubMed: Ravenscroft 2013 - - Germline - - - - - Gianina Ravenscroft & Nigel Laing
+/+ 1 2 c.1270_1272delinsAGATCAAGGT - r.(?) p.(Asp424Argfs*23) g.42729751_42729753delinsAGATCAAGGT g.42688259_42688261delinsAGATCAAGGT - - KLHL40_000010 - PubMed: Ravenscroft 2013 - - Germline - - - - - Gianina Ravenscroft & Nigel Laing
+/+ 1 2 c.1281_1294del - r.(?) p.(Cys428Hisfs*12) g.42729762_42729775del g.42688270_42688283del 1281_1294delCTGCCTGGACTCGG - KLHL40_000011 - PubMed: Ravenscroft 2013 - - Germline - - - - - Gianina Ravenscroft & Nigel Laing
+/+ 1 3 c.1364A>G - r.(?) p.(His455Arg) g.42730152A>G g.42688660A>G - - KLHL40_000012 - PubMed: Ravenscroft 2013 - - Germline - - - - - Gianina Ravenscroft & Nigel Laing
+/+ 2 3 c.1405G>T - r.(?) p.(Gly469Cys) g.42730193G>T g.42688701G>T - - KLHL40_000013 - PubMed: Ravenscroft 2013 - - Germline - - - - - Gianina Ravenscroft & Nigel Laing
+?/+? 1 3i c.1421+1G>T - r.spl p.? g.42730210G>T g.42688718G>T - - KLHL40_000027 - - - - Germline - - - - - Tom Winder
+/+ 1 4 c.1516A>C - r.(?) p.(Thr506Pro) g.42730455A>C g.42688963A>C - - KLHL40_000022 - PubMed: Ravenscroft 2013 - - Germline - - - - - Gianina Ravenscroft & Nigel Laing
+/+ 15 4 c.1582G>A - r.(?) p.(Glu528Lys) g.42730521G>A g.42689029G>A - - KLHL40_000014, KLHL40_000024 - PubMed: Ravenscroft 2013 - - Germline - - - - - Gianina Ravenscroft & Nigel Laing
+/+ 1 4i c.1608-1G>A - r.spl p.? g.42732350G>A g.42690858G>A - - KLHL40_000015 - PubMed: Ravenscroft 2013 - - Germline - - - - - Gianina Ravenscroft & Nigel Laing
+/+ 1 5 c.1612G>C - r.(?) p.(Ala538Pro) g.42732355G>C g.42690863G>C - - KLHL40_000016 - PubMed: Ravenscroft 2013 - - Germline - - - - - Gianina Ravenscroft & Nigel Laing
-?/. 1 - 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
-?/. 1 - 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 - - - - - VKGL-NL
+/-? 1 6 c.1762G>A - r.(?) p.(Glu588Lys) g.42733381G>A g.42691889G>A - - KLHL40_000023 1 more item PubMed: Ravenscroft 2013 - - Germline - - - - - Gianina Ravenscroft & Nigel Laing
?/. 1 - 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 - - - - - VKGL-NL
-/. 1 6 c.1849T>C - r.(?) p.(Cys617Arg) g.42733468T>C - - - KLHL40_000034 - - - rs123509 Unknown ? 0.85 controls - - - Florian Erger
?/. 1 - 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 - - - - - VKGL-NL
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