Unique variants in the RECQL gene

Information The variants shown are described using the NM_032941.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Owner     
?/? 1 10 c.1001T>A p.(Leu334*) Hetero no r.(?) - g.21475773A>T - RECQL_000001 - - Dolores Mansilla-Instituto Roffo
-/- 1 19i c.3393+8C>T p.(=) Hetero no r.(=) - g.144511903G>A - RECQL_000002 - - Lina Nuñez-Private Practice
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