All variants in the AIMP1 gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
+?/. 5 c.527T>G r.(?) p.(Val176Gly) - likely pathogenic g.107252964T>G g.106331807T>G - - AIMP1_000002 - - - - Germline yes - - 0 - Zafar Iqbal
+?/. - c.527T>G r.(?) p.(Val176Gly) - likely pathogenic (recessive) g.107252964T>G g.106331807T>G - - AIMP1_000002 novel candidate disease gene PubMed: Hu 2019 - - Germline - - - 0 - Johan den Dunnen
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