Full data view for gene ALG11

Information The variants shown are described using the NM_001004127.2 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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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.-1136T>A r.(?) p.(=) Unknown - pathogenic g.52585419T>A g.52011283T>A ATP7B(NM_000053.4):c.51+4A>T - ATP7B_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-1136T>A r.(?) p.(=) Unknown - pathogenic g.52585419T>A - ATP7B(NM_000053.4):c.51+4A>T - ATP7B_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1110G>A r.(?) p.(=) Unknown - likely benign g.52585445G>A g.52011309G>A ATP7B(NM_000053.4):c.29C>T (p.A10V) - ATP7B_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-1100_-1099del r.(?) p.(=) Unknown - pathogenic g.52585455_52585456del g.52011319_52011320del - - ATP7B_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-1007G>T r.(?) p.(=) Unknown - benign g.52585548G>T g.52011412G>T ATP7B(NM_000053.3):c.-75C>A, ATP7B(NM_000053.4):c.-75C>A - ATP7B_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-1007G>T r.(?) p.(=) Unknown - benign g.52585548G>T g.52011412G>T ATP7B(NM_000053.3):c.-75C>A, ATP7B(NM_000053.4):c.-75C>A - ATP7B_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-1007G>T r.(?) p.(=) Unknown - benign g.52585548G>T g.52011412G>T ATP7B(NM_000053.3):c.-75C>A, ATP7B(NM_000053.4):c.-75C>A - ATP7B_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-674A>G r.(?) p.(=) Unknown - likely pathogenic g.52585881A>G g.52011745A>G ATP7B(NM_000053.4):c.-408T>C - ATP7B_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.26G>C r.(?) p.(Cys9Ser) Unknown - likely benign g.52586580G>C g.52012444G>C ALG11(NM_001004127.2):c.26G>C (p.(Cys9Ser)) - ALG11_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.44+324T>C r.(=) p.(=) Parent #1 - likely benign g.52586922T>C g.52012786T>C - - ALG11_000014 257 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs77505745 Germline - 257/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 257 Mohammed Faruq
-?/. - c.44+324T>C r.(=) p.(=) Both (homozygous) - likely benign g.52586922T>C g.52012786T>C - - ALG11_000014 12 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs77505745 Germline - 12/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 12 Mohammed Faruq
+/. 2 c.257T>C r.257u>c p.Leu86Ser Both (homozygous) - pathogenic g.52593261T>C g.52019125T>C - - ALG11_000001 - PubMed: Rind 2010 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CDG1P - PubMed: Rind 2010 - F - - - - - - - 1 Christian Thiel
?/. - c.406C>T r.(?) p.(Arg136Cys) Unknown - VUS g.52598272C>T - ALG11(NM_001004127.2):c.406C>T (p.R136C, p.(Arg136Cys)) - ALG11_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.406C>T r.(?) p.(Arg136Cys) Unknown - VUS g.52598272C>T - ALG11(NM_001004127.2):c.406C>T (p.R136C, p.(Arg136Cys)) - ALG11_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.479G>T r.(?) p.(Gly160Val) Unknown - pathogenic g.52598345G>T g.52024209G>T ALG11(NM_001004127.2):c.479G>T (p.G160V) - ALG11_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.623_642del r.623_642del p.(Ser208Tyrfs*4) Unknown - VUS g.52598489_52598508del g.52024353_52024372del - - ALG11_000002 - - - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CDG1P - submitted - F - - - - - - - 1 Christian Thiel
+/. 3 c.836A>C r.836a>c p.Tyr279Ser Unknown - pathogenic g.52598702A>C g.52024566A>C - - ALG11_000003 - - - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CDG1P - submitted - F - - - - - - - 1 Christian Thiel
+?/. - c.887del r.(?) p.(Lys296ArgfsTer2) Unknown - likely pathogenic g.52598753del - ALG11(NM_001004127.2):c.887delA (p.K296Rfs*2) - ALG11_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.947C>G r.(?) p.(Pro316Arg) Unknown - VUS g.52598813C>G - ALG11(NM_001004127.3):c.947C>G (p.(Pro316Arg)) - ALG11_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.953A>C r.953a>c p.Gln318Pro Both (homozygous) - pathogenic g.52598819A>C g.52024683A>C - - ALG11_000006 - - - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CDG1P - submitted - M - - - - - - - 1 Christian Thiel
-?/. - c.1029A>G r.(?) p.(Gly343=) Unknown - likely benign g.52598895A>G - ALG11(NM_001004127.2):c.1029A>G (p.G343=) - ALG11_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1107T>C r.(=) p.(=) Both (homozygous) - likely benign g.52598973T>C g.52024837T>C - - ALG11_000015 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs146432805 Germline - 1/2791 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 3 c.1142T>C r.1142u>c p.Leu381Ser Unknown - pathogenic g.52599008T>C g.52024872T>C - - ALG11_000004 - - - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CDG1P - submitted - F - - - - - - - 1 Christian Thiel
?/. - c.1153T>G r.(?) p.(Leu385Val) Unknown - VUS g.52599019T>G - ALG11(NM_001004127.2):c.1153T>G (p.L385V) - ALG11_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.1192G>A r.1192g>a p.Glu398Lys Unknown - pathogenic g.52599058G>A g.52024922G>A - - ALG11_000005 - - - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CDG1P - submitted - F - - - - - - - 1 Christian Thiel
?/. - c.1220G>T r.(?) p.(Cys407Phe) Unknown - VUS g.52602467G>T - ALG11(NM_001004127.2):c.1220G>T (p.C407F) - ALG11_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*491G>A r.(=) p.(=) Unknown - likely benign g.52603217G>A g.52029081G>A UTP14C(NM_021645.5):c.277G>A (p.(Val93Ile)) - ALG11_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.*574_*576del r.(=) p.(=) Unknown - VUS g.52603300_52603302del g.52029164_52029166del NM_021645.5:c.358_360del (Asn120del) - ALG11_000009 variant not associated with phenotype PubMed: de Ligt 2012 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID 23033978-Trio16 PubMed: de Ligt 2012 - M - Netherlands - - - - - 1 Johan den Dunnen
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