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.

10 entries on 1 page. Showing entries 1 - 10.
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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     
?/. 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
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