All variants in the AAGAB gene

Information The variants shown are described using the NM_024666.3 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.1A>G r.(?) p.(Met1?) - likely pathogenic g.67546969T>C - AAGAB(NM_024666.5):c.1A>G (p.M1?) - IQCH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1A>G r.(?) p.(Met1?) - pathogenic g.67546969T>C - AAGAB(NM_024666.5):c.1A>G (p.M1?) - IQCH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.370C>T r.(?) p.(Arg124Ter) - pathogenic g.67528398G>A g.67236060G>A AAGAB(NM_024666.5):c.370C>T (p.R124*) - AAGAB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.370C>T r.(?) p.(Arg124Ter) - pathogenic g.67528398G>A - AAGAB(NM_024666.5):c.370C>T (p.R124*) - AAGAB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.394A>C r.(?) p.(Ile132Leu) - benign g.67528374T>G g.67236036T>G AAGAB(NM_001271886.2):c.67A>C (p.I23L) - AAGAB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
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