Transcript #00017605

Transcript name transcript variant 1
Gene name RECQL5 (RecQ protein-like 5)
Chromosome 17
Transcript - NCBI ID NM_004259.6
Transcript - Ensembl ID -
Protein - NCBI ID NP_004250.4
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

80 entries on 1 page. Showing entries 1 - 80.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. 2 c.130G>A - r.spl? p.(Gly44Ser)
./. - c.190C>G - r.(?) p.(Leu64Val)
./. - c.220A>G - r.(?) p.(Ile74Val)
+/. 3 c.233C>T - r.(?) p.(Pro78Leu)
./. - c.251A>G - r.(?) p.(Gln84Arg)
+/. 4 c.305C>T - r.(?) p.(Ser102Leu)
./. - c.442C>T - r.(?) p.(Arg148Cys)
-?/. - c.523C>T likely benign r.(?) p.(Arg175Cys)
./. - c.524G>A - r.(?) p.(Arg175His)
+/. 4 c.539G>A - r.(?) p.(Arg180His)
./. - c.545G>A - r.(?) p.(Arg182His)
./. - c.563G>T - r.(?) p.(Cys188Phe)
+/. 4 c.657del - r.(?) p.(Cys220Alafs*15)
?/. - c.716A>G VUS r.(?) p.(Tyr239Cys)
-?/. - c.802A>G likely benign r.(?) p.(Thr268Ala)
./. - c.1048G>C - r.(?) p.(Ala350Pro)
./. - c.1078C>T - r.(?) p.(Arg360Cys)
?/. - c.1202C>T - r.(?) p.(Ala401Val)
./. - c.1229G>A - r.(?) p.(Gly410Glu)
./. - c.1229+516T>G - r.(=) p.(=)
./. - c.1261G>A - r.(?) p.(Gly421Arg)
./. - c.1321C>T - r.(?) p.(Arg441Trp)
./. - c.1327C>T - r.(?) p.(Arg443Trp)
./. - c.1328G>A - r.(?) p.(Arg443Gln)
./. - c.1328G>A - r.(?) p.(Arg443Gln)
./. - c.1346G>A - r.(?) p.(Arg449His)
./. - c.1375G>T - r.(?) p.(Gly459Trp)
-?/. - c.1393G>A likely benign r.(?) p.(Gly465Ser)
./. - c.1423C>T - r.(?) p.(Arg475Cys)
./. - c.1459G>A - r.(?) p.(Gly487Ser)
./. - c.1536G>A - r.(?) p.(Met512Ile)
-?/. - c.1536G>A likely benign r.(?) p.(Met512Ile)
./. - c.1544G>A - r.(?) p.(Arg515His)
?/. 11 c.1556A>C - r.(?) p.(Asp519Ala)
-?/. - c.1586-8_1586-5dup likely benign r.spl? p.?
-?/. - c.1586-7_1586-5dup likely benign r.spl? p.?
-?/. - c.1586-6_1586-5dup likely benign r.spl? p.?
-?/. - c.1586-5dup likely benign r.spl? p.?
?/. 13 c.1648C>T - r.(?) p.(Arg550Trp)
?/. 14 c.1810_1812del - r.spl? p.(Lys604del)
./. - c.1883G>A - r.(?) p.(Ser628Asn)
./. - c.1883G>A - r.(?) p.(Ser628Asn)
./. - c.1883G>A - r.(?) p.(Ser628Asn)
./. - c.1921A>G - r.(?) p.(Ile641Val)
./. - c.1961G>C - r.(?) p.(Arg654Pro)
./. - c.1994C>T - r.(?) p.(Pro665Leu)
-?/. - c.1994C>T likely benign r.(?) p.(Pro665Leu)
./. - c.2060G>C - r.(?) p.(Arg687Pro)
./. - c.2060G>C - r.(?) p.(Arg687Pro)
./. - c.2060G>C - r.(?) p.(Arg687Pro)
./. - c.2081C>T - r.(?) p.(Pro694Leu)
./. - c.2090C>A - r.(?) p.(Pro697His)
./. - c.2146G>A - r.(?) p.(Val716Ile)
-?/. - c.2146G>T likely benign r.(?) p.(Val716Phe)
./. - c.2188A>G - r.(?) p.(Lys730Glu)
?/. 16 c.2233C>T - r.(?) p.(Arg745Trp)
./. - c.2272C>T - r.(?) p.(His758Tyr)
./. - c.2293G>A - r.(?) p.(Ala765Thr)
./. - c.2296C>T - r.(?) p.(Arg766Cys)
-?/. - c.2296C>T likely benign r.(?) p.(Arg766Cys)
./. - c.2324C>T - r.(?) p.(Pro775Leu)
./. - c.2324C>T - r.(?) p.(Pro775Leu)
-?/. - c.2324C>T likely benign r.(?) p.(Pro775Leu)
./. - c.2330T>C - r.(?) p.(Leu777Pro)
./. - c.2335G>A - r.(?) p.(Ala779Thr)
+/. 16 c.2393dup - r.(?) p.(Met799Aspfs*24)
./. - c.2444C>T - r.(?) p.(Ser815Leu)
./. - c.2497C>T - r.(?) p.(Pro833Ser)
./. - c.2663C>T - r.(?) p.(Ser888Leu)
./. - c.2671G>A - r.(?) p.(Glu891Lys)
./. - c.2728G>A - r.(?) p.(Val910Ile)
-?/. - c.2728G>A likely benign r.(?) p.(Val910Ile)
./. - c.2750A>C - r.(?) p.(Asn917Thr)
./. - c.2806-2A>G - r.spl? p.?
./. - c.2828G>A - r.(?) p.(Arg943His)
?/. - c.2858C>G - r.(?) p.(Thr953Ser)
./. - c.2874C>G - r.(?) p.(Ser958Arg)
./. - c.2921G>A - r.(?) p.(Arg974Gln)
?/. 20 c.2926C>T - r.(?) p.(Arg976Trp)
./. - c.2947T>G - r.(?) p.(Trp983Gly)
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