Full data view for gene ALG6

Euroglycanet logoCongenital Disorders of Glycosylation (CDG)
Some variants in this database are copied from the CDG database at the Euroglycanet site.
Information The variants shown are described using the NM_013339.3 transcript reference sequence.

50 entries on 1 page. Showing entries 1 - 50.
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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.53G>A r.(?) p.(Arg18Gln) Unknown - VUS g.63836701G>A g.63371030G>A - - ALG6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.54A>G r.(?) p.(Arg18=) Unknown - likely benign g.63836702A>G g.63371031A>G ALG6(NM_013339.4):c.54A>G (p.R18=) - ALG6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3i c.167+5G>A r.(=) p.(=) Parent #1 - pathogenic g.63862273G>A g.63396602G>A IVS3+5G>A - ALG6_000002 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1C - - - ? - ? (unknown) - - 0 - - 1 Gert Matthijs
?/+? 3i c.167+5G>A r.(=) p.(=) Parent #1 - VUS g.63862273G>A g.63396602G>A IVS3+5G>A - ALG6_000002 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1C - - - ? - Ireland - - 0 - - 1 Gert Matthijs
?/. - c.175A>G r.(?) p.(Asn59Asp) Unknown - VUS g.63867932A>G g.63402261A>G ALG6(NM_013339.3):c.175A>G (p.(Asn59Asp)) - ALG6_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.218C>T r.(?) p.(Pro73Leu) Unknown - VUS g.63867975C>T g.63402304C>T - - ALG6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.257+2dup r.spl? p.? Unknown - likely pathogenic g.63868016dup - ALG6(NM_013339.4):c.257+2dupT - ALG6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.257+5G>A r.spl? p.? Unknown - pathogenic g.63868019G>A g.63402348G>A ALG6(NM_013339.3):c.257+5G>A, ALG6(NM_013339.4):c.257+5G>A - ALG6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.257+5G>A r.spl? p.? Unknown - pathogenic g.63868019G>A g.63402348G>A ALG6(NM_013339.3):c.257+5G>A, ALG6(NM_013339.4):c.257+5G>A - ALG6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.257+5G>A r.spl? p.? Unknown - pathogenic g.63868019G>A g.63402348G>A ALG6(NM_013339.3):c.257+5G>A, ALG6(NM_013339.4):c.257+5G>A - ALG6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.257+5G>A r.spl? p.? Unknown - pathogenic g.63868019G>A g.63402348G>A ALG6(NM_013339.3):c.257+5G>A, ALG6(NM_013339.4):c.257+5G>A - ALG6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.257+5G>A r.spl? p.? Parent #1 - pathogenic g.63868019G>A g.63402348G>A - - ALG6_000007 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs199682486 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.370T>G r.(?) p.(Tyr124Asp) Unknown - VUS g.63872011T>G g.63406340T>G ALG6(NM_013339.4):c.370T>G (p.Y124D) - ALG6_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.391T>C r.(?) p.(Tyr131His) Unknown - VUS g.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - 0 - DNA SEQ-NG, SEQ blood - ACRDYS-1, autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 6 c.391T>C r.(?) p.(Tyr131His) Unknown - VUS g.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - 0 - DNA SEQ-NG, SEQ blood - ACRDYS-1, autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 6 c.391T>C r.(?) p.(Tyr131His) Unknown - VUS g.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - 0 - DNA SEQ-NG, SEQ blood - ACRDYS-1, autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 6 c.391T>C r.(?) p.(Tyr131His) Unknown - VUS g.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - 0 - DNA SEQ-NG, SEQ blood, - autism, BD-E1, BMD/DMD, DFNB;ARNSHL - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 6 c.391T>C r.(?) p.(Tyr131His) Unknown - VUS g.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - 0 - DNA SEQ-NG, SEQ , blood - ACRDYS-1, autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. - c.391T>C r.(?) p.(Tyr131His) Unknown - benign g.63872032T>C g.63406361T>C ALG6(NM_013339.3):c.391T>C (p.Y131H), ALG6(NM_013339.4):c.391T>C (p.Y131H) - ALG6_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.391T>C r.(?) p.(Tyr131His) Unknown - likely benign g.63872032T>C g.63406361T>C ALG6(NM_013339.3):c.391T>C (p.Y131H), ALG6(NM_013339.4):c.391T>C (p.Y131H) - ALG6_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.391T>C r.(?) p.(Tyr131His) Parent #1 - likely benign g.63872032T>C g.63406361T>C - - ALG6_000005 53 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35383149 Germline - 53/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 53 Mohammed Faruq
-?/. - c.391T>C r.(?) p.(Tyr131His) Both (homozygous) - likely benign g.63872032T>C g.63406361T>C - - ALG6_000005 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35383149 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-/. - c.391T>C r.(?) p.(Tyr131His) Both (homozygous) - likely benign g.63872032T>C - - - ALG6_000005 - PubMed: Starosta 2020 - - Unknown ? - - - - DNA SEQ-NG - - neuropathy, optic - PubMed: Starosta 2020 - F ? United States - - - - - 1 Benjamin Billiet
?/. - c.495-2A>G r.spl? p.? Unknown - VUS g.63876815A>G g.63411144A>G ALG6(NM_013339.4):c.495-2A>G - ALG6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.680+2T>G r.spl? p.? Unknown - likely pathogenic g.63877004T>G g.63411333T>G ALG6(NM_013339.4):c.680+2T>G - ALG6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.897_899del r.(?) p.(Ile299del) Unknown - pathogenic g.63879812_63879814del g.63414141_63414143del ALG6(NM_013339.4):c.897_899delAAT (p.I299del) - ALG6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.897_899del r.(?) p.(Ile299del) Unknown - likely pathogenic g.63879812_63879814del g.63414141_63414143del ALG6(NM_013339.4):c.897_899delAAT (p.I299del) - ALG6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.897_899del r.(?) p.(Ile299del) Unknown - pathogenic g.63879812_63879814del g.63414141_63414143del ALG6(NM_013339.4):c.897_899delAAT (p.I299del) - ALG6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/+? 11 c.908_910del r.(?) p.(Cys303del) Parent #2 - VUS g.63881549_63881551del g.63415878_63415880del - - ALG6_000004 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1C - - - ? - Ireland - - 0 - - 1 Gert Matthijs
-/. - c.911C>T r.(?) p.(Ser304Phe) Unknown - benign g.63881552C>T g.63415881C>T ALG6(NM_013339.4):c.911C>T (p.S304F) - ALG6_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.911C>T r.(?) p.(Ser304Phe) Unknown - benign g.63881552C>T g.63415881C>T ALG6(NM_013339.4):c.911C>T (p.S304F) - ALG6_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.997G>C r.(?) p.(Ala333Pro) Unknown - likely pathogenic g.63885050G>C g.63419379G>C ALG6(NM_013339.4):c.997G>C (p.A333P) - ALG6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 12 c.998C>T r.(?) p.(Ala333Val) Unknown - VUS g.63885051C>T g.63419380C>T - - ALG6_000006 - - - - Unknown ? - - 0 - DNA ? blood - CDG-1C - - - M no Netherlands Caucasian - 0 - none 1 Anke Rietveld
+?/. - c.998C>T r.(?) p.(Ala333Val) Unknown - likely pathogenic g.63885051C>T g.63419380C>T ALG6(NM_013339.4):c.998C>T (p.A333V) - ALG6_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.998C>T r.(?) p.(Ala333Val) Unknown - pathogenic g.63885051C>T g.63419380C>T ALG6(NM_013339.4):c.998C>T (p.A333V) - ALG6_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.998C>T r.(?) p.(Ala333Val) Unknown - pathogenic g.63885051C>T g.63419380C>T ALG6(NM_013339.4):c.998C>T (p.A333V) - ALG6_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 12 c.998C>T r.(?) p.(Ala333Val) Parent #2 - pathogenic g.63885051C>T g.63419380C>T - - ALG6_000001 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1C - - - ? - ? (unknown) - - 0 - - 1 Gert Matthijs
?/+? 12 c.998C>T r.(?) p.(Ala333Val) Parent #2 - VUS g.63885051C>T g.63419380C>T - - ALG6_000001 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1C - - - ? - South Africa - - 0 - - 1 Gert Matthijs
?/+? 12 c.998C>T r.(?) p.(Ala333Val) Both (homozygous) - VUS g.63885051C>T g.63419380C>T - - ALG6_000001 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1C - - - ? - Netherlands - - 0 - - 1 Gert Matthijs
?/+? 12 c.998C>T r.(?) p.(Ala333Val) Both (homozygous) - VUS g.63885051C>T g.63419380C>T - - ALG6_000001 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1C - - - ? - Netherlands - - 0 - - 1 Gert Matthijs
?/+? 12 c.998C>T r.(?) p.(Ala333Val) Both (homozygous) - VUS g.63885051C>T g.63419380C>T - - ALG6_000001 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1C - - - ? - Netherlands - - 0 - - 1 Gert Matthijs
?/+? 12 c.998C>T r.(?) p.(Ala333Val) Both (homozygous) - VUS g.63885051C>T g.63419380C>T - - ALG6_000001 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1C - - - ? - Netherlands - - 0 - - 1 Gert Matthijs
?/+? 12 c.998C>T r.(?) p.(Ala333Val) Both (homozygous) - VUS g.63885051C>T g.63419380C>T - - ALG6_000001 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1C - - - ? - Netherlands - - 0 - - 1 Gert Matthijs
?/+? 12 c.998C>T r.(?) p.(Ala333Val) Both (homozygous) - VUS g.63885051C>T g.63419380C>T - - ALG6_000001 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1C - - - ? - Italy - - 0 - - 1 Gert Matthijs
+/. - c.998C>T r.(?) p.(Ala333Val) Parent #1 - pathogenic g.63885051C>T g.63419380C>T - - ALG6_000001 1 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121908443 Germline - 1/2771 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+/. - c.998C>T r.(?) p.(Ala333Val) Both (homozygous) - pathogenic g.63885051C>T g.63419380C>T - - ALG6_000001 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121908443 Germline - 1/2771 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+?/. - c.1061C>T r.(?) p.(Pro354Leu) Unknown - likely pathogenic g.63894406C>T g.63428735C>T - - ALG6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1327-9dup r.(=) p.(=) Unknown - likely benign g.63902485dup g.63436814dup ALG6(NM_013339.4):c.1327-9_1327-8insT - ALG6_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/+? 15 c.1338dup r.(?) p.(Val447Serfs*44) Parent #1 - VUS g.63902505dup g.63436834dup c.1338_1339insA - ALG6_000003 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1C - - - ? - South Africa - - 0 - - 1 Gert Matthijs
+?/. - c.1355T>G r.(?) p.(Leu452Arg) Unknown - likely pathogenic g.63902522T>G g.63436851T>G ALG6(NM_013339.4):c.1355T>G (p.L452R) - ALG6_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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