Unique variants in gene CUBN

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

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

Reported     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 1 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 - - - - Anne Polvi
+/+ 1 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
./. 1 - c.123-16C>G - - - g.17171265G>C - CUBN:c.123-16C>G - chr10_001410 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
+/+ 1 02 c.250C>T - r.(250c>u) p.(Gln84*) g.17171122G>A g.17129123G>A - - CUBN_000003 1 Turkish MGA1 family (hom) PubMed: Tanner et al. 2004 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 02i c.252+1G>A - r.spl? p.? g.17171119C>T g.17129120C>T - - CUBN_000009 1 Pakistani MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 05 c.434G>A - r.(434g>a) p.(Gly145Glu) g.17165642C>T g.17123643C>T - - CUBN_000004 2 Bedouin MGA1 families (hom) PubMed: Tanner et al. 2004, PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 05 c.489G>A - r.489_490ins137 p.Gly164fs g.17165587C>T g.17123588C>T C.489_490ins137bp; p.Gly164fs - CUBN_000011 1 German MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
./. 1 - c.593+6del - - - g.17164788del - CUBN:c.593+6delT - chr10_000637 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
+?/+? 1 07 c.673T>A - r.(673u>a) p.(Cys225Ser) g.17157517A>T g.17115518A>T - - CUBN_000012 1 Norwegian MGA1 family (hom) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 09 c.889C>T - r.(889c>u) p.(Gln297*) g.17153044G>A g.17111045G>A - - CUBN_000013 1 German MGA1 patient (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 09 c.1010C>T - r.(1010c>u) p.(Pro337Leu) g.17152923G>A g.17110924G>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
./. 1 - c.1165C>A - - - g.17147521G>T - CUBN:c.1165C>A (P389T) - chr10_001409 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
+?/+? 1 11i c.1230+1G>A - r.spl? p.? g.17147455C>T g.17105456C>T - - CUBN_000005 1 Finnish MGA1 family (com-het) PubMed: Tanner et al. 2004 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 13 c.1436C>G - r.(1436c>g) p.(Ser479*) g.17145218G>C g.17103219G>C p.Leu479* - CUBN_000015 1 Spanish MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 13 c.1526delG - r.(1526delg) p.(Gly509Glufs*13) g.17145128delC g.17103129delC p.Gly509fs - CUBN_000016 1 Western European MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 13 c.1530G>A - r.1418_1530del p.Val473Glyfs*26 g.17145124C>T g.17103125C>T - - CUBN_000017 1 German MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
./. 1 - c.1558C>T - - - g.17142211G>A - CUBN:c.1558C>T (R520W) - chr10_001585 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 15 c.1838delG - r.(1838delg) p.(Gly613Glufs*9) g.17130272delC g.17088273delC p.Gly613fs - CUBN_000018 1 Finnish MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 15 c.1865delC - r.(1865delc) p.(Thr622Ilefs*7) g.17130245delG g.17088246delG - - CUBN_000019 1 Western European MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 16 c.1951C>G - r.(1951c>g) p.(Arg651Gly) g.17127755G>C g.17085756G>C - - CUBN_000020 1 Taiwan (Han) MGA1 family (het) PubMed: Tanner et al. 2012 - rs182512508 SUMMARY record yes - - - - Anne Polvi
+/+ 1 16 c.1951C>T - r.(1951C>T) p.(Arg651*) g.17127755G>A g.17085756G>A - - CUBN_000006 1 Turkish MGA1 family (hom) PubMed: Tanner et al. 2004 - - SUMMARY record yes - - - - Anne Polvi
?/? 1 16 c.2068A>G - r.(2068a>g) p.(Ile690Val) g.17127638T>C g.17085639T>C - - CUBN_000021 1 Swedish MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
./. 1 - c.2445C>T - - - g.17113827G>A - CUBN:c.2445C>T (V815=) - chr10_001586 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 1 19 c.2486C>T - r.(2486c>u) p.(Ser829Leu) g.17113564G>A g.17071565G>A - - CUBN_000022 1 Dutch MGA1 patient (het) PubMed: Tanner et al. 2012 - - SUMMARY record - - - - - Anne Polvi
./. 1 - c.2487G>A - - - g.17113563C>T - CUBN:c.2487G>A (=) - chr10_001411 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
+/+ 1 19 c.2515_2533del - r.(?) p.(Glu839Profs*55) g.17113517_17113535del g.17071518_17071536del c.2511_2529del - CUBN_000023 1 English MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
./., +?/+? 2 19 c.2594G>A - r.(2594g>a) p.(Ser865Asn) g.17113456C>T g.17071457C>T CUBN:c.2594G>A (S865N) - CUBN_000024 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 more item PubMed: Tanner et al. 2012 - rs138083522 CLASSIFICATION record, SUMMARY record yes - - - - Anne Polvi
+/+ 1 19 c.2614_2615delGA - r.(2614_2615delga) p.(Asp872Leufs*3) g.17113435_17113436delTC g.17071436_17071437delTC p.Asp872fs - CUBN_000025 2 Ashkenazi MGA1 patients (hom) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
./. 1 - c.2625G>T - - - g.17113425C>A - CUBN:c.2625G>T (E875D) - chr10_001412 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
+/+ 1 20 c.2673C>A - r.(2673c>a) p.(Cys891*) g.17110722G>T g.17068723G>T - - CUBN_000026 1 Western European MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
./. 1 - c.2791+9C>T - - - g.17110595G>A - CUBN:c.2791+9C>T - chr10_001413 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
./. 1 - c.2840G>A - - - g.17110231C>T - CUBN:c.2840G>A (G947D) - chr10_001587 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 21 c.2949C>A - r.(2949c>a) p.(Tyr983*) g.17110122G>T g.17068123G>T - - CUBN_000027 1 Spanish MGA1 patient (hom) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 22 c.3056C>G - r.(3056c>g) p.(Ser1019*) g.17107590G>C g.17065591G>C - - CUBN_000028 1 Algerian MGA1 family (hom) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 22 c.3096delT - r.(3096delu) p.(Tyr1032*) g.17107550delA g.17065551delA p.Thr1032* - CUBN_000029 1 Northern European MGA1 family (het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
./. 1 - c.3282C>T - - - g.17089460G>A - CUBN:c.3282C>T (S1094=) - chr10_001588 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 2 23i c.3330-439C>G - r.[3329_3330ins66, 3329_3330ins125], r.spl? p.0, p.? g.17088532G>C g.17046533G>C IVS23-439C>G (FM2), c.3330-439C>G; aberrant splicing - CUBN_000002 1 Finnish MGA1 family (hom), 1 Swedish MGA1 family (com-het) PubMed: Aminoff et al. 1999, PubMed: Tanner et al. 2004, PubMed: Tanner et al. 2012 - - SUMMARY record yes 0/151 CON - - - Anne Polvi
+?/+? 1 25 c.3577T>G - r.(3577u>g) p.(Trp1193Gly) g.17087101A>C g.17045102A>C - - CUBN_000031 1 Moroccan MGA1 family (hom) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
./. 1 - c.3604G>A - - - g.17087074C>T - CUBN:c.3604G>A (A1202T) - chr10_001589 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 1 26 c.3749C>T - r.(3749c>u) p.(Ser1250Phe) g.17085906G>A g.17043907G>A - - CUBN_000032 1 Turkish MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+/+, +?/+? 2 27 c.3890C>T - r.(3890c>u) p.(Pro1297Leu) g.17083159G>A g.17041160G>A 3916C>T (FM1) Finnish Major mutation - CUBN_000001 Finnish Major MGA1 mutation: 19 Finnish MGA1 families (18 hom and 1 com-het), 4 Finnish MGA1 patients PubMed: Aminoff et al. 1999, PubMed: Tanner et al. 2004, dbSNP, PubMed: Tanner et al. 2012 - rs121434430 SUMMARY record yes 1/158 CON (het) - - - Anne Polvi
+/+ 1 27 c.3999C>A - r.(3999c>a) p.(Cys1333*) g.17083050G>T g.17041051G>T - - CUBN_000034 1 Finnish MGA1 family (het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 28 c.4115C>G - r.(4115c>g) p.(Thr1372Arg) g.17061885G>C g.17019886G>C - - CUBN_000035 2 Turkish MGA1 families (hom) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 28 c.4168G>A - r.(4168g>a) p.(Gly1390Ser) g.17061832C>T g.17019833C>T - - CUBN_000036 1 English MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
./. 1 - c.4563T>A - - - g.17024615A>T - CUBN:c.4563T>A (=) - chr10_000621 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
./. 1 - c.4675C>T - - - g.17024503G>A - CUBN:c.4675C>T (P1559S) - chr10_001414 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
./. 1 - c.5323C>T - - - g.16989253G>A - CUBN:c.5323C>T (R1775W) - chr10_001415 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
./. 1 - c.5412G>T - - - g.16982167C>A - CUBN:c.5412G>T (T1804=) - chr10_001590 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.5522C>T - - - g.16982057G>A - CUBN:c.5522C>T (T1841M) - chr10_001591 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.5759C>T - - - g.16979758G>A - CUBN:c.5759C>T (A1920V) - chr10_001592 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.5856A>G - - - g.16979661T>C - CUBN:c.5856A>G (=) - chr10_001416 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
./. 1 - c.6124+8C>T - - - g.16975078G>A - CUBN:c.6124+8C>T - chr10_001417 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
./. 1 - c.6142C>G - - - g.16970285G>C - CUBN:c.6142C>G (Q2048E) - chr10_001593 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 43 c.6479A>G - r.(?) p.(Asp2160Gly) g.16967407T>C g.16925408T>C - - CUBN_000037 - Bullich G et al, submitted - - Unknown - - - - - -
./. 1 - c.6485G>A - - - g.16967401C>T - CUBN:c.6485G>A (C2162Y) - chr10_001418 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
./. 1 - c.6822-6C>T - - - g.16960805G>A - CUBN:c.6822-6C>T - chr10_001594 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.6924A>T - - - g.16960697T>A - CUBN:c.6924A>T (S2308=) - chr10_001595 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.7365T>A - - - g.16955978A>T - CUBN:c.7365T>A (D2455E) - chr10_000650 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
./. 1 - c.8150C>G - - - g.16943371G>C - CUBN:c.8150C>G (S2717W) - chr10_001419 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
./. 1 - c.8399C>T - - - g.16942635G>A - CUBN:c.8399C>T (T2800I) - chr10_001420 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
./. 1 - c.9335T>C - - - g.16911754A>G - CUBN:c.9335T>C (F3112S) - chr10_000840 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.9340G>A - - - g.16911749C>T - CUBN:c.9340G>A (G3114S) - chr10_001421 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
./. 1 - c.9491C>G - - - g.16893406G>C - CUBN:c.9491C>G (S3164W) - chr10_001596 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.9828G>A - - - g.16882533C>T - CUBN:c.9828G>A (M3276I) - chr10_001422 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
./. 1 - c.9843A>G - - - g.16882518T>C - CUBN:c.9843A>G (=) - chr10_001423 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
./. 1 - c.9986C>T - - - g.16882375G>A - CUBN:c.9986C>T (S3329L) - chr10_001597 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.10105A>G - - - g.16878309T>C - CUBN:c.10105A>G (S3369G) - chr10_001583 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.10383C>T - - - g.16873396G>A - CUBN:c.10383C>T (S3461=) - chr10_001584 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 2 - c.10471A>G - - - g.16873308T>C - CUBN:c.10471A>G (S3491G) - chr10_001449 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.10474G>T - - - g.16873305C>A - CUBN:c.10474G>T (D3492Y) - chr10_001408 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
./. 1 - c.10685G>A - - - g.16870883C>T - CUBN:c.10685G>A (G3562E) - chr10_001450 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
Legend  

Genomic reference sequence: hg19 (GRCh37)