Unique variants in the ALG6 gene

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.

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

Reported     

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     
?/. 1 - c.53G>A r.(?) p.(Arg18Gln) - VUS g.63836701G>A g.63371030G>A - - ALG6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.54A>G r.(?) p.(Arg18=) - 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 - - - - - VKGL-NL_Rotterdam
+/+, ?/+? 2 3i c.167+5G>A r.(=) p.(=) - pathogenic, VUS g.63862273G>A g.63396602G>A IVS3+5G>A - ALG6_000002 - - - - Unknown - - - - - Gert Matthijs
?/. 1 - c.175A>G r.(?) p.(Asn59Asp) - 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 - - - - - VKGL-NL_Leiden
?/. 1 - c.218C>T r.(?) p.(Pro73Leu) - VUS g.63867975C>T g.63402304C>T - - ALG6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.257+2dup r.spl? p.? - likely pathogenic g.63868016dup - ALG6(NM_013339.4):c.257+2dupT - ALG6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 5 - c.257+5G>A r.spl? p.? - 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 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs199682486 Germline, CLASSIFICATION record - 1/2795 individuals - - - Mohammed Faruq, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_Utrecht, VKGL-NL_Groningen
?/. 1 - c.370T>G r.(?) p.(Tyr124Asp) - 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 - - - - - VKGL-NL_Rotterdam
?/., -?/., -/. 10 6 c.391T>C r.(?) p.(Tyr131His) - VUS, likely benign, 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 53 heterozygous; Clinindb (India), 1 homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020, PubMed: Starosta 2020 - rs35383149 Germline, Unknown, CLASSIFICATION record ? 53/2795 individuals, 1/2795 individuals - - - Gerard C.P. Schaafsma, Mohammed Faruq, Benjamin Billiet, VKGL-NL_Utrecht, VKGL-NL_Groningen
?/. 1 - c.495-2A>G r.spl? p.? - VUS g.63876815A>G g.63411144A>G ALG6(NM_013339.4):c.495-2A>G - ALG6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.680+2T>G r.spl? p.? - 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 - - - - - VKGL-NL_VUmc
+?/., +/. 3 - c.897_899del r.(?) p.(Ile299del) - likely pathogenic, 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 - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/+? 1 11 c.908_910del r.(?) p.(Cys303del) - VUS g.63881549_63881551del g.63415878_63415880del - - ALG6_000004 - - - - Unknown - - - - - Gert Matthijs
-/. 2 - c.911C>T r.(?) p.(Ser304Phe) - 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 - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
+?/. 1 - c.997G>C r.(?) p.(Ala333Pro) - 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 - - - - - VKGL-NL_Rotterdam
+/+, ?/+?, +/., +?/., ?/. 14 12 c.998C>T r.(?) p.(Ala333Val) - pathogenic, VUS, likely pathogenic g.63885051C>T g.63419380C>T ALG6(NM_013339.4):c.998C>T (p.A333V) - ALG6_000001, ALG6_000006 VKGL data sharing initiative Nederland, 1 heterozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs121908443 Unknown, CLASSIFICATION record, Germline ? 1/2771 individuals - - - Gert Matthijs, VKGL-NL_AMC, VKGL-NL_Nijmegen, Mohammed Faruq, VKGL-NL_Rotterdam, Anke Rietveld
+?/. 1 - c.1061C>T r.(?) p.(Pro354Leu) - likely pathogenic g.63894406C>T g.63428735C>T - - ALG6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1327-9dup r.(=) p.(=) - likely benign g.63902485dup g.63436814dup ALG6(NM_013339.4):c.1327-9_1327-8insT - ALG6_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/+? 1 15 c.1338dup r.(?) p.(Val447Serfs*44) - VUS g.63902505dup g.63436834dup c.1338_1339insA - ALG6_000003 - - - - Unknown - - - - - Gert Matthijs
+?/. 1 - c.1355T>G r.(?) p.(Leu452Arg) - 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 - - - - - VKGL-NL_Groningen
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