All variants in the AGL gene

Information The variants shown are described using the NM_000642.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

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     
-/. - c.1155G>T r.(?) p.(Lys385Asn) - benign g.100340782G>T g.99875226G>T AGL(NM_000028.2):c.1155G>T (p.(Lys385Asn), p.K385N) - AGL_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.1155G>T r.(?) p.(Lys385Asn) - likely benign g.100340782G>T g.99875226G>T AGL(NM_000028.2):c.1155G>T (p.(Lys385Asn), p.K385N) - AGL_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1155G>T r.(?) p.(Lys385Asn) - likely benign g.100340782G>T g.99875226G>T - - AGL_000030 24 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28730701 Germline - 24/2794 individuals - 0 - Mohammed Faruq
-?/. - c.1155G>T r.(?) p.(Lys385Asn) - likely benign g.100340782G>T g.99875226G>T - - AGL_000030 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28730701 Germline - 2/2794 individuals - 0 - Mohammed Faruq
-?/. - c.1155G>T r.(?) p.(Lys385Asn) - likely benign g.100340782G>T - AGL(NM_000028.2):c.1155G>T (p.(Lys385Asn), p.K385N) - AGL_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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