All variants in the AGA gene

Information The variants shown are described using the NM_000027.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

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.313C>A r.(?) p.(Leu105Ile) - likely benign g.178360811G>T g.177439657G>T AGA(NM_000027.3):c.313C>A (p.(Leu105Ile)) - AGA_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.313C>A r.(?) p.(Leu105Ile) - benign g.178360811G>T g.177439657G>T - - AGA_000050 11 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs76491548 Germline - 11/2795 individuals - 0 - Mohammed Faruq
Legend   How to query