All transcript variants in gene CUBN

Information The variants shown are described using the NM_001081.3 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 01-25 c.(?_-52)_(*1009_?)del - r.0 p.0 g.(?_16865965)_(17171816_?)del - complete CUBN gene deletion - CUBN_000007 1 German (com-het) and 1 Spanish MGA1 family (com-het); Hauck-1 mutation PubMed: Hauck et al. 2008, PubMed: Tanner et al. 2012 - SUMMARY record yes - - 0 - Anne Polvi
+/+ 01-28 c.(?_-52)_4018+?del - r.? p.? g.(?_17061982)_(17171816_?)del - del Exons 1-28 - CUBN_000010 1 Pakistani MGA1 family (com-het) PubMed: Tanner et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+/+ 02 c.250C>T - r.(250c>u) p.(Gln84*) g.17171122G>A - - - CUBN_000003 1 Turkish MGA1 family (hom) PubMed: Tanner et al. 2004 - SUMMARY record yes - - - - Anne Polvi
+?/+? 02i c.252+1G>A - r.spl? p.? g.17171119C>T - - - CUBN_000009 1 Pakistani MGA1 family (com-het) PubMed: Tanner et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+?/+? 05 c.434G>A - r.(434g>a) p.(Gly145Glu) g.17165642C>T - - - CUBN_000004 2 Bedouin MGA1 families (hom) PubMed: Tanner et al. 2004, PubMed: Tanner et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+/+ 05 c.489G>A - r.489_490ins137 p.Gly164fs g.17165587C>T - C.489_490ins137bp; p.Gly164fs - CUBN_000011 1 German MGA1 family (com-het) PubMed: Tanner et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+?/+? 07 c.673T>A - r.(673u>a) p.(Cys225Ser) g.17157517A>T - - - CUBN_000012 1 Norwegian MGA1 family (hom) PubMed: Tanner et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+/+ 09 c.889C>T - r.(889c>u) p.(Gln297*) g.17153044G>A - - - CUBN_000013 1 German MGA1 patient (com-het) PubMed: Tanner et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+?/+? 09 c.1010C>T - r.(1010c>u) p.(Pro337Leu) g.17152923G>A - - - CUBN_000008 1 German and 2 European MGA1 families (com-het) PubMed: Hauck et al. 2008, PubMed: Tanner et al. 2012 rs202153130 SUMMARY record yes - - - - Anne Polvi
+?/+? 11i c.1230+1G>A - r.spl? p.? g.17147455C>T - - - CUBN_000005 1 Finnish MGA1 family (com-het) PubMed: Tanner et al. 2004 - SUMMARY record yes - - - - Anne Polvi
+/+ 13 c.1436C>G - r.(1436c>g) p.(Ser479*) g.17145218G>C - p.Leu479* - CUBN_000015 1 Spanish MGA1 family (com-het) PubMed: Tanner et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+/+ 13 c.1526delG - r.(1526delg) p.(Gly509Glufs*13) g.17145128delC - p.Gly509fs - CUBN_000016 1 Western European MGA1 family (com-het) PubMed: Tanner et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+/+ 13 c.1530G>A - r.1418_1530del p.Val473Glyfs*26 g.17145124C>T - - - CUBN_000017 1 German MGA1 family (com-het) PubMed: Tanner et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+/+ 15 c.1838delG - r.(1838delg) p.(Gly613Glufs*9) g.17130272delC - p.Gly613fs - CUBN_000018 1 Finnish MGA1 family (com-het) PubMed: Tanner et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+/+ 15 c.1865delC - r.(1865delc) p.(Thr622Ilefs*7) g.17130245delG - - - CUBN_000019 1 Western European MGA1 family (com-het) PubMed: Tanner et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+?/+? 16 c.1951C>G - r.(1951c>g) p.(Arg651Gly) g.17127755G>C - - - CUBN_000020 1 Taiwan (Han) MGA1 family (het) PubMed: Tanner et al. 2012 rs182512508 SUMMARY record yes - - - - Anne Polvi
+/+ 16 c.1951C>T - r.(1951C>T) p.(Arg651*) g.17127755G>A - - - CUBN_000006 1 Turkish MGA1 family (hom) PubMed: Tanner et al. 2004 - SUMMARY record yes - - - - Anne Polvi
?/? 16 c.2068A>G - r.(2068a>g) p.(Ile690Val) g.17127638T>C - - - CUBN_000021 1 Swedish MGA1 family (com-het) PubMed: Tanner et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+?/+? 19 c.2486C>T - r.(2486c>u) p.(Ser829Leu) g.17113564G>A - - - CUBN_000022 1 Dutch MGA1 patient (het) PubMed: Tanner et al. 2012 - SUMMARY record - - - - - Anne Polvi
+/+ 19 c.2515_2533del - r.(?) p.(Glu839Profs*55) g.17113517_17113535del - c.2511_2529del - CUBN_000023 1 English MGA1 family (com-het) PubMed: Tanner et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+?/+? 19 c.2594G>A - r.(2594g>a) p.(Ser865Asn) g.17113456C>T - - - CUBN_000024 3 MGA1 families: Albanian, Scottish and Turkish PubMed: Tanner et al. 2012 rs138083522 SUMMARY record yes - - - - Anne Polvi
+/+ 19 c.2614_2615delGA - r.(2614_2615delga) p.(Asp872Leufs*3) g.17113435_17113436delTC - p.Asp872fs - CUBN_000025 2 Ashkenazi MGA1 patients (hom) PubMed: Tanner et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+/+ 20 c.2673C>A - r.(2673c>a) p.(Cys891*) g.17110722G>T - - - CUBN_000026 1 Western European MGA1 family (com-het) PubMed: Tanner et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+/+ 21 c.2949C>A - r.(2949c>a) p.(Tyr983*) g.17110122G>T - - - CUBN_000027 1 Spanish MGA1 patient (hom) PubMed: Tanner et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+/+ 22 c.3056C>G - r.(3056c>g) p.(Ser1019*) g.17107590G>C - - - CUBN_000028 1 Algerian MGA1 family (hom) PubMed: Tanner et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+/+ 22 c.3096delT - r.(3096delu) p.(Tyr1032*) g.17107550delA - p.Thr1032* - CUBN_000029 1 Northern European MGA1 family (het) PubMed: Tanner et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+/+ 23i c.3330-439C>G - r.[3329_3330ins66, 3329_3330ins125] p.0 g.17088532G>C - IVS23-439C>G (FM2) - CUBN_000002 1 Finnish MGA1 family (hom) PubMed: Aminoff et al. 1999, PubMed: Tanner et al. 2004 - SUMMARY record yes 0/151 CON - - - Anne Polvi
+/+ 23i c.3330-439C>G - r.spl? p.? g.17088532G>C - c.3330-439C>G; aberrant splicing - CUBN_000002 1 Swedish MGA1 family (com-het) PubMed: Tanner et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+?/+? 25 c.3577T>G - r.(3577u>g) p.(Trp1193Gly) g.17087101A>C - - - CUBN_000031 1 Moroccan MGA1 family (hom) PubMed: Tanner et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+?/+? 26 c.3749C>T - r.(3749c>u) p.(Ser1250Phe) g.17085906G>A - - - CUBN_000032 1 Turkish MGA1 family (com-het) PubMed: Tanner et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+/+ 27 c.3890C>T - r.(3890c>u) p.(Pro1297Leu) g.17083159G>A - 3916C>T (FM1) Finnish Major mutation - CUBN_000001 Finnish Major MGA1 mutation: 19 Finnish MGA1 families (18 hom and 1 com-het) PubMed: Aminoff et al. 1999, PubMed: Tanner et al. 2004, dbSNP rs121434430 SUMMARY record yes 1/158 CON (het) - - - Anne Polvi
+?/+? 27 c.3890C>T - r.(3890c>u) p.(Pro1297Leu) g.17083159G>A - - - CUBN_000001 4 Finnish MGA1 patients PubMed: Tanner et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+/+ 27 c.3999C>A - r.(3999c>a) p.(Cys1333*) g.17083050G>T - - - CUBN_000034 1 Finnish MGA1 family (het) PubMed: Tanner et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+?/+? 28 c.4115C>G - r.(4115c>g) p.(Thr1372Arg) g.17061885G>C - - - CUBN_000035 2 Turkish MGA1 families (hom) PubMed: Tanner et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+?/+? 28 c.4168G>A - r.(4168g>a) p.(Gly1390Ser) g.17061832C>T - - - CUBN_000036 1 English MGA1 family (com-het) PubMed: Tanner et al. 2012 - SUMMARY record yes - - - - Anne Polvi
?/. 43 c.6479A>G - r.(?) p.(Asp2160Gly) g.16967407T>C - - - CUBN_000037 - Bullich G et al, submitted - Unknown - - - 0 - Elisabet Ars Criach
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Genomic reference sequence: hg19 (GRCh37)