Full data view for gene RECQL4

Information The variants shown are described using the NM_004260.3 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

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Panel size     

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-/- - c.1395G>A - p.? Parent #2 g.145740622C>T - RECQL4_000022 rs34948955 - Germline - - - - DNA SEQ-NG-I 1 BrCa - M Akovon, Arcadia - Greek no - 1 Despoina Kalfakakou
-/- - c.1395G>A - p.? Parent #2 g.145740622C>T - RECQL4_000022 rs34948955 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 3 Despoina Kalfakakou
-/- - c.1395G>A - p.? Parent #2 g.145740622C>T - RECQL4_000022 rs34948955 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Metsovo Ioannina Greek no - 1 Despoina Kalfakakou
-/- - c.1395G>A - p.? Parent #2 g.145740622C>T - RECQL4_000022 rs34948955 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Corfu - Greek no - 1 Despoina Kalfakakou
-/- - c.1395G>A - p.? Parent #2 g.145740622C>T - RECQL4_000022 rs34948955 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kalamos, Attica Region Phthiotis Greek no - 1 Despoina Kalfakakou
-/- - c.1395G>A - p.? Parent #2 g.145740622C>T - RECQL4_000022 rs34948955 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Livadi, Elassona Nea Trapezounta, Pieria Greek no - 1 Despoina Kalfakakou
-/- - c.1395G>A - p.? Parent #2 g.145740622C>T - RECQL4_000022 rs34948955 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - M Santorini Scheveningen, Netherlands Greek no - 1 Despoina Kalfakakou
-/- - c.1395G>A - p.? Parent #2 g.145740622C>T - RECQL4_000022 rs34948955 - Germline - - - - DNA SEQ-NG-I 1 CRC - F Corfu Rethimno, Crete Greek no - 1 Despoina Kalfakakou
-/- - c.1395G>A - p.? Parent #2 g.145740622C>T - RECQL4_000022 rs34948955 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
-/- - c.1395G>A - p.? Parent #2 g.145740622C>T - RECQL4_000022 rs34948955 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Paiania, Attica Region - Greek no - 1 Despoina Kalfakakou
-/- - c.1395G>A - p.? Parent #2 g.145740622C>T - RECQL4_000022 rs34948955 - Germline - - - - DNA SEQ-NG-I 1 BrCa, NHL - F Kalamata Nafplio Greek no - 1 Despoina Kalfakakou
-/- - c.1395G>A - p.? Parent #2 g.145740622C>T - RECQL4_000022 rs34948955 - Germline - - - - DNA SEQ-NG-I 1 RCC - M Athens Peloponnese Greek no - 1 Despoina Kalfakakou
-/- - c.1395G>A - p.? Parent #2 g.145740622C>T - RECQL4_000022 rs34948955 - Germline - - - - DNA SEQ-NG-I 1 - - F Arcadia - Greek no - 1 Despoina Kalfakakou
-/- - c.1395G>A - p.? Parent #2 g.145740622C>T - RECQL4_000022 rs34948955 - Germline - - - - DNA SEQ-NG-I 1 HMGM, Pheo, PNCA2, RCC - F Epiniana, Evrytania - Greek no - 1 Despoina Kalfakakou
-/- - c.1395G>A - p.? Parent #2 g.145740622C>T - RECQL4_000022 rs34948955 - Germline - - - - DNA SEQ-NG-I 1 PNCA2 - M Kymi, Euboea Mytikas, Chalkida Greek no - 1 Despoina Kalfakakou
-/- - c.1395G>A - p.? Parent #2 g.145740622C>T - RECQL4_000022 rs34948955 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kostalexi,, Phthiotis - Greek no - 1 Despoina Kalfakakou
-/- - c.1395G>A - p.? Parent #2 g.145740622C>T - RECQL4_000022 rs34948955 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Larisa - Greek no - 1 Despoina Kalfakakou
-/- - c.1395G>A - p.? Parent #2 g.145740622C>T - RECQL4_000022 rs34948955 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Litochoro, Pieria Larisa Greek no - 1 Despoina Kalfakakou
-/- - c.1395G>A - p.? Parent #2 g.145740622C>T - RECQL4_000022 rs34948955 - Germline - - - - DNA SEQ-NG-I 1 AML, CAL - M Simi Agrinio Greek no - 1 Despoina Kalfakakou
./. - c.1395G>A - p.? Parent #2 g.145740622C>T - RECQL4_000022 rs34948955 - - - - - - DNA SEQ-NG-I 1 BrCa - F Larisa - - - - 1 Stevi Xera
./. - c.1395G>A - p.? Parent #2 g.145740622C>T - RECQL4_000022 rs34948955 - - - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Karditsa - - - - 1 Stevi Xera
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