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.488G>C r.(?) p.(Cys163Ser) Both (homozygous) - VUS g.178359918C>G g.177438764C>G - - AGA_000002 - - - - Germline - - - 0 - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 4 c.488G>C r.488g>c p.Cys163Ser Both (homozygous) - pathogenic g.178359918C>G g.177438764C>G AGU FIN - AGA_000002 Finnish Major AGU mutation, in 98% of Finnish AGU patients; Finnish Major AGU mutation. On the same haplotype with c.482G>A (p.Arg161Gln) PubMed: Ikonen et al. 1991, PubMed: Syvänen et al. 1992, PubMed: Saarela et al. 2001 - rs121964904 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/. - c.488G>C r.(?) p.(Cys163Ser) Unknown - pathogenic g.178359918C>G g.177438764C>G AGA(NM_000027.4):c.488G>C (p.C163S) - AGA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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