Unique variants in the RECQL4 gene

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

15 entries on 1 page. Showing entries 1 - 15.
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Effect     

Reported     

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     
+?/+? 1 05 c.806G>A r.(806g>a) p.(Trp269*) - likely pathogenic g.145741697C>T g.144516313C>T c.806G>A (W269X); RAPADILINO 2 - RECQL4_000010 1 Finnish family (com-het) with RAPADILINO syndrome PubMed: Siitonen et al. 2003 - rs137853231 SUMMARY record yes - - - - Anne Polvi
+/+ 1 07i c.1390+2del r.1259_1390del p.Ala420_Ala463del - pathogenic g.145740708del g.144515324del IVS7+2delT leading skipping of exon 7; RAPADILINO 1 - RECQL4_000011 12 Finnish families (8 hom and 4 com-het) with RAPADILINO syndrome PubMed: Siitonen et al. 2003, PubMed: Siitonen et al. 2009 - - SUMMARY record yes 2/274 cont(het) - - - Anne Polvi
+?/+? 1 08 c.1397C>T r.(1397c>u) p.(Pro466Leu) - likely pathogenic g.145740620G>A g.144515236G>A - - RECQL4_000012 1 Finnish family (com-het) with RAPADILINO syndrome PubMed: Siitonen et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 09 c.1573del r.(?) p.(Cys525Alafs*33) - likely pathogenic g.145740367del g.144514983del - - RECQL4_000013 1 Finnish family (com-het) with RAPADILINO syndrome PubMed: Siitonen et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 12 c.1885_1888del r.(1885_1888del) p.(Arg629Serfs*60) - likely pathogenic g.145739482_145739485del g.144514098_144514101del c.1885del4, p.Arg629SerfsX60 - RECQL4_000014 1 Finnish family (com-het) with RAPADILINO syndrome PubMed: Siitonen et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 12 c.1887_1890del r.(1887_1890del) p.(Glu630Alafs*59) - likely pathogenic g.145739481_145739484del g.144514097_144514100del c.1887del4, p.Glu630AlafsX59 - RECQL4_000015 1 Finnish family (com-het) with RAPADILINO syndrome PubMed: Siitonen et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 12 c.1910T>C r.(1910u>c) p.(Phe637Ser) - likely pathogenic g.145739460A>G g.144514076A>G - - RECQL4_000016 1 Finnish family (com-het) with RAPADILINO syndrome PubMed: Siitonen et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 12i c.2059-1G>A r.spl? p.? - likely pathogenic g.145739097C>T g.144513713C>T - - RECQL4_000017 1 Finnish family (com-het) with RAPADILINO syndrome PubMed: Siitonen et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 13 c.2091T>G r.(2091u>g) p.(Phe697Leu) - likely pathogenic g.145739064A>C g.144513680A>C - - RECQL4_000018 1 Finnish family (com-het) with RAPADILINO syndrome PubMed: Siitonen et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 14 c.2269C>T r.(2269c>u) p.(Gln757*) - likely pathogenic g.145738796G>A g.144513412G>A - - RECQL4_000002 1 Finnish family (com-het) with RAPADILINO syndrome PubMed: Siitonen et al. 2009 - rs137853229 SUMMARY record yes - - - - Anne Polvi
+?/+? 1 15 c.2476C>T r.(2476c>u) p.(Arg826*) - likely pathogenic g.145738509G>A g.144513126G>A - - RECQL4_000020 1 Finnish family (com-het) with RAPADILINO syndrome PubMed: Siitonen et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 18 c.3072del r.(?) p.(Val1026Cysfs*18) - likely pathogenic g.145737691del g.144512308del - - RECQL4_000021 1 Finnish family (com-het) with RAPADILINO syndrome PubMed: Siitonen et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 18 c.3214A>T r.(3214a>u) p.(Arg1072*) - likely pathogenic g.145737549T>A g.144512166T>A c.3214A>T (R1072X); RAPADILINO 4 - RECQL4_000022 1 Finnish family (com-het) with RAPADILINO syndrome PubMed: Siitonen et al. 2003 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 19 c.3271C>T r.(3271c>u) p.(Gln1091*) - likely pathogenic g.145737416G>A g.144512033G>A c.3271C>T (Q1091X); RAPADILINO 3 - RECQL4_000023 1 Finnish family (com-het) with RAPADILINO syndrome PubMed: Siitonen et al. 2003 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 21 c.3599_3600del r.(?) p.(Thr1200Argfs*26) - likely pathogenic g.145736841_145736842del g.144511458_144511459del - - RECQL4_000024 1 Finnish family (com-het) with RAPADILINO syndrome PubMed: Siitonen et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
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