Full data view for gene POGLUT1

Information The variants shown are described using the NM_152305.2 transcript reference sequence.

60 entries on 1 page. Showing entries 1 - 60.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.11G>A r.(?) p.(Trp4Ter) Parent #1 - likely pathogenic (recessive) g.119187879G>A g.119469032G>A - - POGLUT1_000011 - PubMed: Basmanav 2014 - - Germline - - - - - DNA SEQ - - DDD4 patient PubMed: Hanneken 2011, PubMed: Basmanav 2014 patient - - Germany - - - - - 1 Johan den Dunnen
+?/. - c.11G>A r.(?) p.(Trp4Ter) Parent #1 - likely pathogenic (recessive) g.119187879G>A g.119469032G>A - - POGLUT1_000011 - PubMed: Basmanav 2014 - - Germline - - - - - DNA SEQ - - DDD4 patient PubMed: Basmanav 2014 patient - - Denmark - - - - - 1 Johan den Dunnen
+/. - c.20C>A r.(?) p.(Ser7Ter) Parent #1 - pathogenic (dominant) g.119187888C>A g.119469041C>A - - POGLUT1_000012 - PubMed: Ralser 2019 - - Germline - - - - - DNA SEQ - - DDD4 - PubMed: Ralser 2019 - F - - white - - - - 1 Johan den Dunnen
+/. - c.121del r.(?) p.(Arg41GlyfsTer21) Parent #1 - pathogenic (dominant) g.119188702del g.119469855del 121_121delA - POGLUT1_000013 - PubMed: Ralser 2019 - - Germline - - - - - DNA SEQ - - DDD4 - PubMed: Ralser 2019 - - - - - - - - - 1 Johan den Dunnen
+/. - c.130G>T r.(?) p.(Glu44Ter) Parent #1 - pathogenic (dominant) g.119188711G>T g.119469864G>T - - POGLUT1_000014 - PubMed: Ralser 2019 - - Germline - - - - - DNA SEQ - - DDD4 - PubMed: Ralser 2019 - - - - - - - - - 1 Johan den Dunnen
+/. - c.138C>A r.(?) p.(Tyr46Ter) Parent #1 - pathogenic (dominant) g.119188719C>A g.119469872C>A - - POGLUT1_000015 - PubMed: Ralser 2019 - - Germline - - - - - DNA SEQ - - DDD4 - PubMed: Ralser 2019 - F - - white - - - - 1 Johan den Dunnen
+?/. - c.170A>G r.(?) p.(Tyr57Cys) Unknown - likely pathogenic g.119188751A>G g.119469904A>G - - POGLUT1_000005 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 2 Johan den Dunnen
+/. - c.170A>G r.(?) p.(Tyr57Cys) Both (homozygous) - pathogenic (recessive) g.119188751A>G g.119469904A>G Y57C - POGLUT1_000005 - PubMed: Servian-Morilla 2020 - - Germline - - - - - DNA SEQ - - LGMD Fam5PatII1 PubMed: Servian-Morilla 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy - - - - - 1 Johan den Dunnen
+?/. - c.205C>T r.(?) p.(Arg69Ter) Parent #1 - likely pathogenic (recessive) g.119190184C>T g.119471337C>T - - POGLUT1_000016 - PubMed: Basmanav 2014 - - Germline - - - - - DNA SEQ - - DDD4 patient PubMed: Basmanav 2014 patient - - Switzerland - - - - - 1 Johan den Dunnen
+?/. - c.292C>T r.(?) p.(Arg98Trp) Unknown - likely pathogenic g.119190271C>T g.119471424C>T - - POGLUT1_000006 combination of variants not reported PubMed: Topf 2020 - - Germline - 4/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 4 Johan den Dunnen
+/. - c.292C>T r.(?) p.(Arg98Trp) Both (homozygous) - pathogenic (recessive) g.119190271C>T g.119471424C>T R98W - POGLUT1_000006 - PubMed: Servian-Morilla 2020 - - Germline - - - - - DNA SEQ - - LGMD Fam4PatII1 PubMed: Servian-Morilla 2020 2-generation family, 3 affected sisters, unaffected heterozygous carrier parents F - Bulgaria - - - - - 1 Johan den Dunnen
+/. - c.292C>T r.(?) p.(Arg98Trp) Both (homozygous) - pathogenic (recessive) g.119190271C>T g.119471424C>T R98W - POGLUT1_000006 - PubMed: Servian-Morilla 2020 - - Germline - - - - - DNA SEQ - - LGMD Fam4PatII2 PubMed: Servian-Morilla 2020 sister F - Bulgaria - - - - - 1 Johan den Dunnen
+/. - c.292C>T r.(?) p.(Arg98Trp) Both (homozygous) - pathogenic (recessive) g.119190271C>T g.119471424C>T R98W - POGLUT1_000006 - PubMed: Servian-Morilla 2020 - - Germline - - - - - DNA SEQ - - LGMD Fam4PatII3 PubMed: Servian-Morilla 2020 sister F - Bulgaria - - - - - 1 Johan den Dunnen
+/. - c.292del r.(?) p.(Arg98GlyfsTer21) Parent #1 - pathogenic (dominant) g.119190271del g.119471424del 292_292delC - POGLUT1_000017 - PubMed: Ralser 2019 - - Germline - - - - - DNA SEQ - - DDD4 - PubMed: Ralser 2019 - F - - white - - - - 1 Johan den Dunnen
+/. - c.292del r.(?) p.(Arg98GlyfsTer21) Parent #1 - pathogenic (dominant) g.119190271del g.119471424del 292_292delC - POGLUT1_000017 - PubMed: Ralser 2019 - - Germline - - - - - DNA SEQ - - DDD4 - PubMed: Ralser 2019 - F - - white - - - - 1 Johan den Dunnen
+?/. - c.305G>T r.(?) p.(Cys102Phe) Unknown - likely pathogenic g.119190284G>T g.119471437G>T - - POGLUT1_000007 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 2 Johan den Dunnen
+/. - c.305G>T r.(?) p.(Cys102Phe) Both (homozygous) - pathogenic (recessive) g.119190284G>T g.119471437G>T C102F - POGLUT1_000007 - PubMed: Servian-Morilla 2020 - - Germline - - - - - DNA SEQ - - LGMD Fam7PatII1 PubMed: Servian-Morilla 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany - - - - - 1 Johan den Dunnen
+/. - c.320+1G>A r.(177_320del) p.(Val60_Arg107del) Parent #1 - pathogenic (dominant) g.119190300G>C g.119471453G>C - - POGLUT1_000010 effect on RNA predicted from in vitro mini-gene splicing assay PubMed: Ralser 2019 - - Germline - - - - - DNA SEQ - - DDD4 - PubMed: Ralser 2019 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.320+13G>A r.(=) p.(=) Unknown - likely benign g.119190312G>A g.119471465G>A POGLUT1(NM_152305.3):c.320+13G>A - POGLUT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.385A>T r.(?) p.(Ile129Phe) Both (homozygous) - pathogenic (recessive) g.119196224A>T g.119477377A>T I129T - POGLUT1_000018 - PubMed: Servian-Morilla 2020 - - Germline - - - - - DNA SEQ - - LGMD Fam3PatII2 PubMed: Servian-Morilla 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Spain - - - - - 1 Johan den Dunnen
+?/. - c.394C>T r.(?) p.(Arg132Ter) Parent #1 - likely pathogenic (recessive) g.119196233C>T g.119477386C>T - - POGLUT1_000019 - PubMed: Basmanav 2014 - - Germline - - - - - DNA SEQ - - DDD4 patient PubMed: Basmanav 2014 patient - - Germany - - - - - 1 Johan den Dunnen
+/. - c.466T>A r.(?) p.(Tyr156Asn) Parent #1 - pathogenic (recessive) g.119198907T>A g.119480060T>A Y156N - POGLUT1_000020 - PubMed: Servian-Morilla 2020 - - Germline - - - - - DNA SEQ - - LGMD Fam8PatII1 PubMed: Servian-Morilla 2020 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. - c.466T>A r.(?) p.(Tyr156Asn) Parent #1 - pathogenic (recessive) g.119198907T>A g.119480060T>A Y156N - POGLUT1_000020 - PubMed: Servian-Morilla 2020 - - Germline - - - - - DNA SEQ - - LGMD Fam8PatII2 PubMed: Servian-Morilla 2020 brother M - United States - - - - - 1 Johan den Dunnen
?/. - c.508G>A r.(?) p.(Gly170Arg) Unknown - VUS g.119198949G>A - POGLUT1(NM_152305.3):c.508G>A (p.G170R) - POGLUT1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.547C>T r.(?) p.(Trp184Arg) Both (homozygous) - pathogenic (recessive) g.119198991T>A g.119480144T>A R183W - POGLUT1_000021 - PubMed: Servian-Morilla 2020 - - Germline - - - - - DNA SEQ - - LGMD Fam9PatII1 PubMed: Servian-Morilla 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United Arab Emirates - - - - - 1 Johan den Dunnen
+/. - c.552G>A r.(?) p.(Trp184Ter) Parent #2 - pathogenic (recessive) g.119198993G>A g.119480146G>A W184* - POGLUT1_000022 - PubMed: Servian-Morilla 2020 - - Germline - - - - - DNA SEQ - - LGMD Fam8PatII1 PubMed: Servian-Morilla 2020 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. - c.552G>A r.(?) p.(Trp184Ter) Parent #2 - pathogenic (recessive) g.119198993G>A g.119480146G>A W184* - POGLUT1_000022 - PubMed: Servian-Morilla 2020 - - Germline - - - - - DNA SEQ - - LGMD Fam8PatII2 PubMed: Servian-Morilla 2020 brother M - United States - - - - - 1 Johan den Dunnen
-?/. - c.602A>G r.(?) p.(Lys201Arg) Unknown - likely benign g.119204198A>G - POGLUT1(NM_152305.2):c.602A>G (p.(Lys201Arg)), POGLUT1(NM_152305.3):c.602A>G (p.K201R) - POGLUT1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.602A>G r.(?) p.(Lys201Arg) Unknown - likely benign g.119204198A>G - POGLUT1(NM_152305.2):c.602A>G (p.(Lys201Arg)), POGLUT1(NM_152305.3):c.602A>G (p.K201R) - POGLUT1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.628C>T r.(?) p.(Arg210Ter) Parent #1 - pathogenic (dominant) g.119204224C>T g.119485377C>T - - POGLUT1_000023 - PubMed: Ralser 2019 - - Germline - - - - - DNA SEQ - - DDD4 - PubMed: Ralser 2019 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.635C>G r.(?) p.(Ser212Ter) Parent #1 - likely pathogenic (recessive) g.119204231C>G g.119485384C>G - - POGLUT1_000024 - PubMed: Basmanav 2014 - - Germline - - - - - DNA SEQ - - DDD4 patient PubMed: Basmanav 2014 patient - - Germany - - - - - 1 Johan den Dunnen
+/. - c.652C>T r.(?) p.(Arg218Ter) Unknown - pathogenic g.119205693C>T g.119486846C>T - - POGLUT1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.652C>T r.(?) p.(Arg218Ter) Parent #1 - likely pathogenic (recessive) g.119205693C>T g.119486846C>T - - POGLUT1_000001 - PubMed: Basmanav 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DDD4 FamGPatI1/II1 PubMed: Hanneken 2011, PubMed: Basmanav 2014 2-generation family, affected father/son M - Germany - - - - - 2 Johan den Dunnen
?/. - c.652C>T r.(?) p.(Arg218Ter) Parent #1 - VUS g.119205693C>T g.119486846C>T - - POGLUT1_000001 - PubMed: Basmanav 2014 - - Germline - - - - - DNA SEQ - - DDD4 patient PubMed: Basmanav 2014 patient - - Germany - - - - - 1 Johan den Dunnen
+/. - c.653G>A r.(?) p.(Arg218Gln) Parent #1 - pathogenic (dominant) g.119205694G>A g.119486847G>A - - POGLUT1_000025 - PubMed: Ralser 2019 - - Germline - - - - - DNA SEQ - - DDD4 - PubMed: Ralser 2019 - M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.699T>G r.(?) p.(Asp233Glu) Both (homozygous) - pathogenic (recessive) g.119205740T>G g.119486893T>G - - POGLUT1_000004 - PubMed: Servián-Morilla 2016 - - Germline yes - - - - DNA arraySNP, SEQ, SEQ-NG - - LGMD FamPatII1 PubMed: Servián-Morilla 2016 3-generation family, 4 affected sibs (2F, 2M), unaffected heterozygous carrier parents/relatives M yes Spain - - - - - 4 Johan den Dunnen
+/. - c.699T>G r.(?) p.(Asp233Glu) Both (homozygous) - pathogenic (recessive) g.119205740T>G g.119486893T>G D233E - POGLUT1_000004 - PubMed: Servian-Morilla 2020 - - Germline - - - - - DNA SEQ - - LGMD Fam1PatII2 PubMed: Servian-Morilla 2020 sister F - Spain - - - - - 1 Johan den Dunnen
+/. - c.699T>G r.(?) p.(Asp233Glu) Both (homozygous) - pathogenic (recessive) g.119205740T>G g.119486893T>G D233E - POGLUT1_000004 - PubMed: Servian-Morilla 2020 - - Germline - - - - - DNA SEQ - - LGMD Fam1PatII4 PubMed: Servian-Morilla 2020 sister F - Spain - - - - - 1 Johan den Dunnen
+/. - c.699T>G r.(?) p.(Asp233Glu) Both (homozygous) - pathogenic (recessive) g.119205740T>G g.119486893T>G D233E - POGLUT1_000004 - PubMed: Servian-Morilla 2020 - - Germline - - - - - DNA SEQ - - LGMD Fam1PatII5 PubMed: Servian-Morilla 2020 brother M - Spain - - - - - 1 Johan den Dunnen
+/. - c.699T>G r.(?) p.(Asp233Glu) Parent #1 - pathogenic (recessive) g.119205740T>G g.119486893T>G D233E - POGLUT1_000004 - PubMed: Servian-Morilla 2020 - - Germline - - - - - DNA SEQ - - LGMD Fam2PatII1 PubMed: Servian-Morilla 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Spain - - - - - 1 Johan den Dunnen
?/. - c.738+1_738+2insATACCTTAGGAAAGCCAGCTGCTAAGGATGTCCATCTTGTGGATCACTGCAAATACAAGTATCTGTT r.spl? p.? Unknown - VUS g.119205780_119205781insATACCTTAGGAAAGCCAGCTGCTAAGGATGTCCATCTTGTGGATCACTGCAAATACAAGTATCTGTT - POGLUT1(NM_152305.3):c.738+1_738+2insATACCTTAGGAAAGCCAGCTGCTAAGGATGTCCATCTTGTGGATCACTGCAAATACAAGTATCTGTT - POGLUT1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.798-2A>C r.spl p.? Parent #1 - VUS g.119209396A>C g.119490549A>C - - POGLUT1_000026 - PubMed: Basmanav 2014 - - Germline - - - - - DNA SEQ - - DDD4 patient PubMed: Basmanav 2014 patient - - Germany - - - - - 1 Johan den Dunnen
+?/. - c.798-2A>C r.spl p.? Parent #1 - likely pathogenic (recessive) g.119209396A>C g.119490549A>C - - POGLUT1_000026 - PubMed: Basmanav 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DDD4 FamHPatI1/II1/II2 PubMed: Hanneken 2011, PubMed: Basmanav 2014 2-generation family, affected mother/2 daughters F - Germany - - - - - 3 Johan den Dunnen
+?/. - c.798-2A>C r.spl p.? Parent #1 - likely pathogenic (recessive) g.119209396A>C g.119490549A>C - - POGLUT1_000026 - PubMed: Basmanav 2014 - - Germline - - - - - DNA SEQ - - DDD4 patient PubMed: Basmanav 2014 patient - - Germany - - - - - 1 Johan den Dunnen
+/. - c.798-2A>C r.spl? p.? Unknown - pathogenic g.119209396A>C - - - POGLUT1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.835C>T r.(?) p.(Arg279Trp) Parent #1 - likely pathogenic (recessive) g.119209435C>T g.119490588C>T - - POGLUT1_000028 - PubMed: Basmanav 2014 - - Germline - - - - - DNA SEQ - - Healthy/Control - - - - no Switzerland white - - - - 63 Susan Treves
+?/. - c.835dup r.(?) p.(Arg279ProfsTer3) Parent #1 - likely pathogenic (recessive) g.119209435dup g.119490588dup c.833_834insC - POGLUT1_000027 - PubMed: Basmanav 2014 - - Germline - - - - - DNA SEQ - - DDD4 patient PubMed: Mauerer 2010, PubMed: Basmanav 2014 patient F - Germany - - - - - 1 Johan den Dunnen
+/. - c.836G>A r.(?) p.(Arg279Gln) Parent #2 - pathogenic (recessive) g.119209436G>A g.119490589G>A R279Q - POGLUT1_000029 - PubMed: Servian-Morilla 2020 - - Germline - - - - - DNA SEQ - - LGMD Fam2PatII1 PubMed: Servian-Morilla 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Spain - - - - - 1 Johan den Dunnen
+/. - c.836G>A r.(?) p.(Arg279Gln) Parent #1 - pathogenic (dominant) g.119209436G>A g.119490589G>A - - POGLUT1_000029 - PubMed: Ralser 2019 - - Germline - - - - - DNA SEQ - - DDD4 - PubMed: Ralser 2019 - F - - white - - - - 1 Johan den Dunnen
?/. - c.881G>C r.(?) p.(Gly294Ala) Unknown - VUS g.119209481G>C - - - POGLUT1_000035 - - - rs774934277 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.923G>T r.(?) p.(Trp308Leu) Unknown - likely pathogenic g.119209523G>T g.119490676G>T - - POGLUT1_000008 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 2 Johan den Dunnen
+/. - c.923G>T r.(?) p.(Trp308Leu) Both (homozygous) - pathogenic (recessive) g.119209523G>T g.119490676G>T W308L - POGLUT1_000008 - PubMed: Servian-Morilla 2020 - - Germline - - - - - DNA SEQ - - LGMD Fam6PatII4 PubMed: Servian-Morilla 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Iran - - - - - 1 Johan den Dunnen
+/. - c.983T>G r.(?) p.(Val328Gly) Parent #1 - pathogenic (dominant) g.119210382T>G g.119491535T>G c.938T>G - POGLUT1_000030 - PubMed: Ralser 2019 - - Germline - - - - - DNA SEQ - - DDD4 - PubMed: Ralser 2019 - - - - - - - - - 1 Johan den Dunnen
?/. - c.1022+5G>A r.spl? p.? Unknown - VUS g.119210426G>A - POGLUT1(NM_152305.2):c.1022+5G>A (p.?) - POGLUT1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1025del r.(?) p.(Gly342GlufsTer22) Parent #1 - likely pathogenic (recessive) g.119211131del g.119492284del c.1023_1025delG - POGLUT1_000031 - PubMed: Basmanav 2014 - - Germline - - - - - DNA SEQ - - MHS1 - - - - no Switzerland white - - - - 57 Susan Treves
+/. - c.1051C>T r.(?) p.(Gln351Ter) Parent #1 - pathogenic (dominant) g.119211157C>T g.119492310C>T - - POGLUT1_000032 - PubMed: Ralser 2019 - - Germline - - - - - DNA SEQ - - DDD4 - PubMed: Ralser 2019 - F - - white - - - - 1 Johan den Dunnen
+/. - c.1051C>T r.(?) p.(Gln351Ter) Parent #1 - pathogenic (dominant) g.119211157C>T g.119492310C>T - - POGLUT1_000032 - PubMed: Ralser 2019 - - Germline - - - - - DNA SEQ - - DDD4 - PubMed: Ralser 2019 - M - - white - - - - 1 Johan den Dunnen
+/. - c.1080_1081insG r.(?) p.(Asn361GlufsTer5) Parent #1 - pathogenic (dominant) g.119211186dup g.119492339dup - - POGLUT1_000033 - PubMed: Ralser 2019 - - Germline - - - - - DNA SEQ - - DDD4 - PubMed: Ralser 2019 - F - - white - - - - 1 Johan den Dunnen
-?/. - c.1176A>G r.(?) p.(=) Unknown - likely benign g.119211282A>G - POGLUT1(NM_152305.3):c.1176A>G (p.L392=) - POGLUT1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1179G>A r.(?) p.(Ter393=) Unknown - likely benign g.119211285G>A g.119492438G>A POGLUT1(NM_152305.2):c.1179G>A (p.*393=) - POGLUT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.