All variants in the AIMP1 gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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.-82720C>T r.(?) p.(=) - pathogenic g.107154099C>T g.106232942C>T TBCK(NM_001290768.1):c.1119G>A (p.W373*), TBCK(NM_001290768.2):c.1119G>A (p.W373*) - AIMP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.-82720C>T r.(?) p.(=) - pathogenic g.107154099C>T g.106232942C>T TBCK(NM_001290768.1):c.1119G>A (p.W373*), TBCK(NM_001290768.2):c.1119G>A (p.W373*) - AIMP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.-82720C>T r.(?) p.(=) - pathogenic g.107154099C>T - TBCK(NM_001290768.1):c.1119G>A (p.W373*), TBCK(NM_001290768.2):c.1119G>A (p.W373*) - AIMP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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