All variants in the LHB gene

Information The variants shown are described using the NM_000894.2 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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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     
+/. - c.4G>T r.(?) p.(Glu2Ter) - pathogenic g.49520335C>A g.49017078C>A - - LHB_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.15+9A>G r.(=) p.(=) - benign g.49520315T>C g.49017058T>C LHB(NM_000894.3):c.15+9A>G - LHB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.16-66G>A r.(=) p.(=) - benign g.49520037C>T g.49016780C>T LHB(NM_000894.2):c.16-66G>A - LHB_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.16-26T>C r.(=) p.(=) - benign g.49519997A>G g.49016740A>G LHB(NM_000894.2):c.16-26T>C, LHB(NM_000894.3):c.16-26T>C - LHB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.16-26T>C r.(=) p.(=) - benign g.49519997A>G g.49016740A>G LHB(NM_000894.2):c.16-26T>C, LHB(NM_000894.3):c.16-26T>C - LHB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.28_39del r.(?) p.(Leu10_Leu13del) - pathogenic (recessive) g.49519958_49519969del g.49016701_49016712del - - LHB_000018 - PubMed: Basciani 2012 - - Germline yes - - - - Johan den Dunnen
-/. - c.45G>A r.(?) p.(Met15Ile) - benign g.49519942C>T g.49016685C>T LHB(NM_000894.2):c.45G>A (p.M15I) - LHB_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.82T>C r.(?) p.(Trp28Arg) - benign g.49519905A>G g.49016648A>G LHB(NM_000894.2):c.82T>C (p.W28R) - LHB_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.82T>C r.(?) p.(Trp28Arg) - pathogenic (!) g.49519905A>G g.49016648A>G T>C (Trp8Arg) - LHB_000005 two linked variants PubMed: Furui 1994 - - Germline - - - - - Johan den Dunnen
?/. - c.82T>C r.(?) p.(Trp28Arg) - pathogenic (!) g.49519905A>G g.49016648A>G T>C (Trp8Arg) - LHB_000005 two linked variants PubMed: Furui 1994 - - Germline - - - - - Johan den Dunnen
?/. - c.82T>C r.(?) p.(Trp28Arg) - pathogenic (!) g.49519905A>G g.49016648A>G T>C (Trp8Arg) - LHB_000005 two linked variants PubMed: Furui 1994 - - Germline - - - - - Johan den Dunnen
?/. - c.82T>C r.(?) p.(Trp28Arg) - association g.49519905A>G g.49016648A>G T>C (Trp8Arg) - LHB_000005 two linked variants PubMed: Raivio 1996 - - Germline - - - - - Johan den Dunnen
+/. - c.88_96del r.(?) p.(His30_Ile32del) - pathogenic (recessive) g.49519892_49519900del g.49016635_49016643del - - LHB_000017 - PubMed: Achard 2009 - - Germline yes - - - - Johan den Dunnen
+/. - c.93del r.(?) p.(Ile32SerfsTer30) - pathogenic g.49519897del - - - LHB_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.104T>C r.(?) p.(Ile35Thr) - benign g.49519883A>G g.49016626A>G LHB(NM_000894.2):c.104T>C (p.I35T) - LHB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.104T>C r.(?) p.(Ile35Thr) - pathogenic (!) g.49519883A>G g.49016626A>G T>C (Ile15Thr) - LHB_000004 two linked variants PubMed: Furui 1994 - - Germline - - - - - Johan den Dunnen
?/. - c.104T>C r.(?) p.(Ile35Thr) - pathogenic (!) g.49519883A>G g.49016626A>G T>C (Ile15Thr) - LHB_000004 two linked variants PubMed: Furui 1994 - - Germline - - - - - Johan den Dunnen
?/. - c.104T>C r.(?) p.(Ile35Thr) - pathogenic (!) g.49519883A>G g.49016626A>G T>C (Ile15Thr) - LHB_000004 two linked variants PubMed: Furui 1994 - - Germline - - - - - Johan den Dunnen
?/. - c.104T>C r.(?) p.(Ile35Thr) - association g.49519883A>G g.49016626A>G T>C (Ile15Thr) - LHB_000004 two linked variants PubMed: Raivio 1996 - - Germline - - - - - Johan den Dunnen
-/. - c.114C>G r.(?) p.(Val38=) - benign g.49519873G>C g.49016616G>C LHB(NM_000894.2):c.114C>G (p.V38=), LHB(NM_000894.3):c.114C>G (p.V38=) - LHB_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.114C>G r.(?) p.(Val38=) - benign g.49519873G>C g.49016616G>C LHB(NM_000894.2):c.114C>G (p.V38=), LHB(NM_000894.3):c.114C>G (p.V38=) - LHB_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.132A>C r.(?) p.(Pro44=) - benign g.49519855T>G g.49016598T>G LHB(NM_000894.2):c.132A>C (p.P44=), LHB(NM_000894.3):c.132A>C (p.P44=) - LHB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.132A>C r.(?) p.(Pro44=) - benign g.49519855T>G g.49016598T>G LHB(NM_000894.2):c.132A>C (p.P44=), LHB(NM_000894.3):c.132A>C (p.P44=) - LHB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.167G>A r.(?) p.(Gly56Asp) - pathogenic (recessive) g.49519820C>T g.49016563C>T Gly36Asp - LHB_000015 - PubMed: Valdes-Socin 2004 - - Germline - - - - - Johan den Dunnen
+/. - c.183+1G>C r.183_184ins[c;183+2_184-1] p.? - pathogenic (recessive) g.49519803C>G g.49016546C>G IVS2+1G>C - LHB_000016 - PubMed: Lofrano-Porto 2007 - - Germline yes - - - - Johan den Dunnen
+/. 2i c.183+1G>T r.183_184ins[u;183+2_184-1] p.? - pathogenic (recessive) g.49519803C>A g.49016546C>A IVS2+1G>T - LHB_000019 - PubMed: Basciani 2012 - - Germline yes - - - - Johan den Dunnen
-/. - c.183+11T>C r.(=) p.(=) - benign g.49519793A>G g.49016536A>G LHB(NM_000894.2):c.183+11T>C, LHB(NM_000894.3):c.183+11T>C - LHB_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.183+11T>C r.(=) p.(=) - benign g.49519793A>G g.49016536A>G LHB(NM_000894.2):c.183+11T>C, LHB(NM_000894.3):c.183+11T>C - LHB_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.183+18del r.(=) p.(=) - benign g.49519786del g.49016529del LHB(NM_000894.3):c.183+18delA - LHB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.221A>G r.(?) p.(Gln74Arg) - pathogenic (!) g.49519530T>C g.49016273T>C 161A>G (Gln54Arg) - LHB_000014 3 heterozygous carrier maternal uncles infertile PubMed: Weiss 1992 - - Germline - - - - - Johan den Dunnen
-/. - c.285T>C r.(?) p.(Gly95=) - benign g.49519466A>G g.49016209A>G LHB(NM_000894.3):c.285T>C (p.G95=) - LHB_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*24773C>T r.(=) p.(=) - likely benign g.49494552G>A - GYS1(NM_002103.4):c.300+7C>T - GYS1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*24774G>A r.(=) p.(=) - likely benign g.49494551C>T - GYS1(NM_002103.4):c.300+8G>A - GYS1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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