Unique variants in the ALMS1 gene

Information The variants shown are described using the NM_015120.4 transcript reference sequence.

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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Owner     
+/+ 1 - c.5846_5847delTC r.(?) p.(Gln1951Thrfs*34) Likely Pathogenic g.73679503_73679504delTC - ALMS1_000001 variome.ir
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