All variants in the RECQL4 gene

Information The variants shown are described using the NM_004260.4 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Owner     
-/- 3 c.132A>G p.(=) Homo no r.(=) - g.144517495T>C - RECQL4_000001 - - Lina Nuñez-Private Practice
?/? 7 c.1372C>T p.(Pro458Ser) Hetero no r.(?) - g.144515344G>A - RECQL4_000006 - - Pablo Kalfayan-Hospital Italiano
-/- 3 c.212A>G p.(Glu71Gly) Hetero no r.(?) - g.144517415T>C - RECQL4_000002 - - Lina Nuñez-Private Practice
-/- 17 c.3014G>A p.(Arg1005Gln) Hetero no r.(?) - g.144512433C>T - RECQL4_000003 - - Lina Nuñez-Private Practice
-/- 5 c.738C>T p.(=) Hetero no r.(=) - g.144516381G>A - RECQL4_000004 - - Lina Nuñez-Private Practice
-/- 5 c.801G>C p.(=) Hetero no r.(=) - g.144516318C>G - RECQL4_000005 - - Lina Nuñez-Private Practice
?/? 2 c.92T>G p.(Val31Gly) Hetero no r.? - g.144517628A>C - RECQL4_000015 rs904809747 - Pablo Kalfayan-Hospital Italiano
?/? 5 c.631G>A p.(Asp211Asn) Hetero no r.(631g>a) - g.144516488C>T - RECQL4_000007 - - Cecilia Montes-IMGO
?/? 5 c.903A>T p.(Glu301Asp) Hetero no r.(903a>u) - g.144516216T>A - RECQL4_000013 rs746200109 - Pablo Kalfayan-Hospital Italiano
?/? 5 c.1021A>G p.(Ile341Val) Hetero no r.(1021a>g) - g.144516098T>C - RECQL4_000016 rs1022453211 - Guillermo Alberto-Instituto Fleming
?/? 5 c.1124G>A p.Arg375His Hetero no r.(1124g>a) - g.144515995C>T - RECQL4_000011 rs398124115 - Yolanda Isabel Medina - Hospital Juan D. Perón
?/? 14 c.2261G>A p.(Arg754Gln) Hetero CHEK2 r.? - g.144513420C>T - RECQL4_000017 rs190061994 - Jesica Ramirez-Hospital Central de Mendoza
+?/+? 15 c.2500_2501del p.Ala834ArgfsTer49 Hetero no r.(2500_2501del) - g.144513102_144513103del - RECQL4_000010 - - Laura Vargas Roig-IMBECU
?/? 15 c.2705G>A p.(Arg902Gln) Hetero no r.(2705g>a) - g.144512897C>T - RECQL4_000012 rs372205013 - Cecilia Montes-IMGO
?/? 15 c.2747C>T p.(Pro916Leu) Hetero N/A r.(2747c>u) - g.144512855G>A - RECQL4_000009 rs375049839 - Pablo Kalfayan-Hospital Italiano
?/? 18 c.3185G>A p.(Arg1062Gln) Hetero no r.? - g.144512195C>T - RECQL4_000014 rs558058260 - Pablo Kalfayan-Hospital Italiano
?/? 20 c.3430C>T p.(Arg1144Cys) Hetero no r.(3430c>u) - g.144511753G>A - RECQL4_000008 - - Silvina Sisterna-Hospital de Comunidad
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