Full data view for gene AGA

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

3 entries on 1 page. Showing entries 1 - 3.
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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.482G>A r.(?) p.(Arg161Gln) Both (homozygous) - VUS g.178359924C>T g.177438770C>T - - AGA_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 4 c.482G>A r.482g>a p.Arg161Gln Unknown - VUS g.178359924C>T g.177438770C>T - - AGA_000001 Finnish variant; On the same haplotype with Finnish Major mutation. PubMed: Ikonen et al. 1991, PubMed: Syvänen et al. 1992, PubMed: Saarela et al. 2001 - rs192195150 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.482G>A r.(?) p.(Arg161Gln) Unknown - likely benign g.178359924C>T g.177438770C>T AGA(NM_000027.3):c.482G>A (p.R161Q) - AGA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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