All transcript variants in gene RECQL5

Information The variants shown are described using the NM_004259.6 transcript reference sequence.

71 entries on 1 page. Showing entries 1 - 71.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
+/. 2 c.130G>A - r.spl? p.(Gly44Ser) g.73662508C>T - - - RECQL5_000052 - - - - Germline no - - 0 - Alejandra Tavera-Tapia
./. - c.190C>G - r.(?) p.(Leu64Val) g.73661193G>C g.75665113G>C - - RECQL5_000038 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.220A>G - r.(?) p.(Ile74Val) g.73661163T>C g.75665083T>C - - RECQL5_000037 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
+/. 3 c.233C>T - r.(?) p.(Pro78Leu) g.73661150G>A - - - RECQL5_000055 - - - - Germline ? - - 0 - Alejandra Tavera-Tapia
./. - c.251A>G - r.(?) p.(Gln84Arg) g.73661132T>C g.75665052T>C - - RECQL5_000036 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
+/. 4 c.305C>T - r.(?) p.(Ser102Leu) g.73659025G>A - - - RECQL5_000059 - - - - Germline ? - - 0 - Alejandra Tavera-Tapia
./. - c.442C>T - r.(?) p.(Arg148Cys) g.73658888G>A g.75662808G>A - - RECQL5_000035 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.524G>A - r.(?) p.(Arg175His) g.73658806C>T g.75662726C>T - - RECQL5_000034 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
+/. 4 c.539G>A - r.(?) p.(Arg180His) g.73658791C>T - - - RECQL5_000056 - - - - Germline no - - 0 - Alejandra Tavera-Tapia
./. - c.545G>A - r.(?) p.(Arg182His) g.73658785C>T g.75662705C>T - - RECQL5_000033 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.563G>T - r.(?) p.(Cys188Phe) g.73658767C>A g.75662687C>A - - RECQL5_000032 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
+/. 4 c.657del - r.(?) p.(Cys220Alafs*15) g.73658673del - 657delC - RECQL5_000053 - - - - Germline ? - - 0 - Alejandra Tavera-Tapia
?/. - c.716A>G VUS r.(?) p.(Tyr239Cys) g.73658614T>C - RECQL5(NM_001003715.3):c.716A>G (p.(Tyr239Cys)) - RECQL5_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. - c.1048G>C - r.(?) p.(Ala350Pro) g.73654479C>G g.75658399C>G - - RECQL5_000031 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.1078C>T - r.(?) p.(Arg360Cys) g.73654449G>A g.75658369G>A - - RECQL5_000030 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
?/. - c.1202C>T - r.(?) p.(Ala401Val) g.73647293G>A - - - RECQL5_000062 - - - - Germline ? - - 0 - Alejandra Tavera-Tapia
./. - c.1229G>A - r.(?) p.(Gly410Glu) g.73647266C>T g.75651186C>T - - RECQL5_000029 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.1229+516T>G - r.(=) p.(=) g.73646750A>C g.75650670A>C - - RECQL5_000028 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.1261G>A - r.(?) p.(Gly421Arg) g.73627717C>T g.75631637C>T - - RECQL5_000027 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.1321C>T - r.(?) p.(Arg441Trp) g.73627657G>A g.75631577G>A - - RECQL5_000020 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.1327C>T - r.(?) p.(Arg443Trp) g.73627651G>A g.75631571G>A - - RECQL5_000019 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.1328G>A - r.(?) p.(Arg443Gln) g.73627650C>T g.75631570C>T - - RECQL5_000018 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.1328G>A - r.(?) p.(Arg443Gln) g.73627650C>T g.75631570C>T - - RECQL5_000018 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.1346G>A - r.(?) p.(Arg449His) g.73627632C>T g.75631552C>T - - RECQL5_000017 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.1375G>T - r.(?) p.(Gly459Trp) g.73627603C>A g.75631523C>A - - RECQL5_000016 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.1423C>T - r.(?) p.(Arg475Cys) g.73627555G>A g.75631475G>A - - RECQL5_000015 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.1459G>A - r.(?) p.(Gly487Ser) g.73627319C>T g.75631239C>T - - RECQL5_000014 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.1536G>A - r.(?) p.(Met512Ile) g.73627242C>T g.75631162C>T - - RECQL5_000013 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.1544G>A - r.(?) p.(Arg515His) g.73627234C>T g.75631154C>T - - RECQL5_000012 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
?/. 11 c.1556A>C - r.(?) p.(Asp519Ala) g.73627083T>G - - - RECQL5_000061 - - - - Germline ? - - 0 - Alejandra Tavera-Tapia
-?/. - c.1586-6_1586-5dup likely benign r.spl? p.? g.73626932_73626933dup - RECQL5(NM_004259.6):c.1586-5_1586-4insCC (p.?) - RECQL5_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1586-5dup likely benign r.spl? p.? g.73626933dup - RECQL5(NM_004259.6):c.1586-5dupC (p.?) - RECQL5_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 13 c.1648C>T - r.(?) p.(Arg550Trp) g.73626769G>A - - - RECQL5_000057 - - - - Germline no - - 0 - Alejandra Tavera-Tapia
?/. 14 c.1810_1812del - r.spl? p.(Lys604del) g.73626264_73626266del g.75630184_75630186del 1812delAAG - RECQL5_000011 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.1883G>A - r.(?) p.(Ser628Asn) g.73625852C>T g.75629772C>T - - RECQL5_000010 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.1883G>A - r.(?) p.(Ser628Asn) g.73625852C>T g.75629772C>T - - RECQL5_000010 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.1883G>A - r.(?) p.(Ser628Asn) g.73625852C>T g.75629772C>T - - RECQL5_000010 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.1921A>G - r.(?) p.(Ile641Val) g.73625814T>C g.75629734T>C - - RECQL5_000009 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.1961G>C - r.(?) p.(Arg654Pro) g.73625542C>G g.75629462C>G - - RECQL5_000008 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.1994C>T - r.(?) p.(Pro665Leu) g.73625509G>A g.75629429G>A - - RECQL5_000007 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
-?/. - c.1994C>T likely benign r.(?) p.(Pro665Leu) g.73625509G>A - RECQL5(NM_004259.6):c.1994C>T (p.(Pro665Leu)) - RECQL5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. - c.2060G>C - r.(?) p.(Arg687Pro) g.73625443C>G g.75629363C>G - - RECQL5_000006 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.2060G>C - r.(?) p.(Arg687Pro) g.73625443C>G g.75629363C>G - - RECQL5_000006 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.2060G>C - r.(?) p.(Arg687Pro) g.73625443C>G g.75629363C>G - - RECQL5_000006 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.2081C>T - r.(?) p.(Pro694Leu) g.73625422G>A g.75629342G>A - - RECQL5_000005 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.2090C>A - r.(?) p.(Pro697His) g.73625413G>T g.75629333G>T - - RECQL5_000004 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.2146G>A - r.(?) p.(Val716Ile) g.73625357C>T g.75629277C>T - - RECQL5_000003 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.2188A>G - r.(?) p.(Lys730Glu) g.73625315T>C g.75629235T>C - - RECQL5_000002 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
?/. 16 c.2233C>T - r.(?) p.(Arg745Trp) g.73625270G>A - - - RECQL5_000060 - - - - Germline ? - - 0 - Alejandra Tavera-Tapia
./. - c.2272C>T - r.(?) p.(His758Tyr) g.73625231G>A g.75629151G>A - - RECQL5_000001 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.2293G>A - r.(?) p.(Ala765Thr) g.73625210C>T g.75629130C>T - - RECQL5_000026 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.2296C>T - r.(?) p.(Arg766Cys) g.73625207G>A g.75629127G>A - - RECQL5_000025 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.2324C>T - r.(?) p.(Pro775Leu) g.73625179G>A g.75629099G>A - - RECQL5_000024 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.2324C>T - r.(?) p.(Pro775Leu) g.73625179G>A g.75629099G>A - - RECQL5_000024 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.2330T>C - r.(?) p.(Leu777Pro) g.73625173A>G g.75629093A>G - - RECQL5_000023 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.2335G>A - r.(?) p.(Ala779Thr) g.73625168C>T g.75629088C>T - - RECQL5_000022 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
+/. 16 c.2393dup - r.(?) p.(Met799Aspfs*24) g.73625110dup - 2393dupC - RECQL5_000054 - - - - Germline ? - - 0 - Alejandra Tavera-Tapia
./. - c.2444C>T - r.(?) p.(Ser815Leu) g.73625059G>A g.75628979G>A - - RECQL5_000021 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.2497C>T - r.(?) p.(Pro833Ser) g.73624835G>A g.75628755G>A - - RECQL5_000047 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.2663C>T - r.(?) p.(Ser888Leu) g.73624440G>A g.75628360G>A - - RECQL5_000046 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.2671G>A - r.(?) p.(Glu891Lys) g.73624432C>T g.75628352C>T - - RECQL5_000045 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.2728G>A - r.(?) p.(Val910Ile) g.73624375C>T g.75628295C>T - - RECQL5_000044 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
-?/. - c.2728G>A likely benign r.(?) p.(Val910Ile) g.73624375C>T - RECQL5(NM_004259.6):c.2728G>A (p.V910I) - RECQL5_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
./. - c.2750A>C - r.(?) p.(Asn917Thr) g.73624353T>G g.75628273T>G - - RECQL5_000043 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.2806-2A>G - r.spl? p.? g.73623774T>C g.75627694T>C - - RECQL5_000042 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.2828G>A - r.(?) p.(Arg943His) g.73623750C>T g.75627670C>T - - RECQL5_000041 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
?/. - c.2858C>G - r.(?) p.(Thr953Ser) g.73623720G>C - - - RECQL5_000063 - - - - Germline ? - - 0 - Alejandra Tavera-Tapia
./. - c.2874C>G - r.(?) p.(Ser958Arg) g.73623704G>C g.75627624G>C - - RECQL5_000040 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
./. - c.2921G>A - r.(?) p.(Arg974Gln) g.73623557C>T g.75627477C>T - - RECQL5_000039 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
?/. 20 c.2926C>T - r.(?) p.(Arg976Trp) g.73623552G>A - - - RECQL5_000058 - - - - Germline ? - - 0 - Alejandra Tavera-Tapia
./. - c.2947T>G - r.(?) p.(Trp983Gly) g.73623531A>C g.75627451A>C - - RECQL5_000048 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
Legend