Unique variants in gene NBN

Information The variants shown are described using the NM_002485.4 transcript reference sequence.

59 entries on 1 page. Showing entries 1 - 59.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     
-/- 1 - c.-37G>C r.(=) p.(=) g.90996826C>G - NBN_000022  rs543890002 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.-30C>T r.(=) p.(=) g.90996819G>A - NBN_000021 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.-4A>G r.(=) p.(=) g.90996793T>C - NBN_000046 rs1234783086 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.2140 C>T r.(?) p.(Arg714*) g.90955525G>A - NBN_000054 rs730881864 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.15G>C r.(=) p.(=) g.90996775C>G - NBN_000013 rs1363180098 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.27C>T r.(=) p.(=) g.90996763G>A - NBN_000023 rs1554569662 - Germline - - - - Despoina Kalfakakou
-?/-? 4 - c.37+10G>C r.(=) p.(=) g.90996743C>G - NBN_000029 rs369408590 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.37+30A>G r.(=) p.(=) g.90996723T>C - NBN_000048 rs1805846 - Germline - - - - Despoina Kalfakakou
?/? 4 - c.171+4T>C r.spl? p.? g.90994946A>G - NBN_000036 rs587782290 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.172-12C>G r.(=) p.(=) g.90993763G>C - NBN_000016 rs1363297893 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.265C>T r.(?) p.(Arg89*) g.90993658G>A - NBN_000056 rs587783059 - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.266G>A r.(?) p.(Arg89Gln) g.90993657C>T - NBN_000033 rs747315554 - Germline - - - - Despoina Kalfakakou
-?/-? 9 - c.283G>A r.(?) p.(Asp95Asn) g.90993640C>T - NBN_000012 rs61753720 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.287G>T r.(?) p.(Gly96Val) g.90993636C>A - NBN_000026 - - Germline - - - - Despoina Kalfakakou
-?/-? 5 - c.381T>C r.(=) p.(=) g.90993061A>G - NBN_000011 rs61754795 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.425A>G r.(?) p.(Asn142Ser) g.90993017T>C - NBN_000043 rs769414 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.426T>C r.(=) p.(=) g.90993016A>G - NBN_000025 rs143070291 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.456G>A r.(?) p.(Met152Ile) g.90992986C>T - NBN_000004 rs201816949 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.481-44G>T r.(=) p.(=) g.90990595C>A - NBN_000047 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.481-24A>G r.(=) p.(=) g.90990575T>C - NBN_000051 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.505C>T r.(?) p.(Arg169Cys) g.90990527G>A - NBN_000010 rs182756889 - Germline - - - - Despoina Kalfakakou
-?/-? 9 - c.511A>G r.(?) p.(Ile171Val) g.90990521T>C   Yamamoto et al (2014)   NBN_000003 rs61754966 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.547G>A r.(?) p.(Ala183Thr) g.90990485C>T - NBN_000057 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.584+7T>A - - g.90990441A>T - NBN_000052  rs1057523869 - Germline - - - - Despoina Kalfakakou
?/? 15 - c.643C>T r.(?) p.(Arg215Trp) g.90983460G>A - NBN_000017 rs34767364 - Germline - - - - Despoina Kalfakakou
+/+ 7 - c.657_661del r.(?) p.(Lys219Asnfs*16) g.90983442_90983446del 1 more item NBN_000002  rs587776650 Low risk allele Germline ? - - - Despoina Kalfakakou
?/? 2 - c.702+51A>T r.(=) p.(=) g.90983350T>A - NBN_000044 - - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.819A>T r.(=) p.(=) g.90982669T>A - NBN_000039 rs147660518 - Germline - - - - Despoina Kalfakakou
+?/+? 3 - c.896+2T>C r.spl? p.? g.90982590A>G - NBN_000055 - - Germline ? - - - Despoina Kalfakakou
?/? 2 - c.896+38A>G r.(=) p.(=) g.90982554T>C - NBN_000042 rs375313714 - Germline - - - - Despoina Kalfakakou
?/? 3 - c.897-50A>G r.(=) p.(=) g.90976785T>C - NBN_000035 rs772125533 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.897-35T>A r.(=) p.(=) g.90976770A>T - NBN_000050 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.899A>G r.(?) p.(Gln300Arg) g.90976733T>C - NBN_000028 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.938C>T r.(?) p.(Ala313Val) g.90976694G>A - NBN_000045 rs730881862 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.994+36C>T r.(=) p.(=) g.90976602G>A - NBN_000030 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.995-36G>T r.(=) p.(=) g.90971118C>A - NBN_000009 - - Germline - - - - Despoina Kalfakakou
-/- 3 - c.1124+11_1124+13del r.(=) p.(=) g.90970940_90970942del - NBN_000027 rs747584990 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1124+39A>G r.(=) p.(=) g.90970914T>C - NBN_000049 rs373256780 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1125-41A>G r.(=) p.(=) g.90967824T>C - NBN_000024 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1281A>G r.(=) p.(=) g.90967627T>C - NBN_000032 rs1554559167 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1306T>C r.(=) p.(=) g.90967602A>G - NBN_000034 rs375885975 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1314T>C r.(=) p.(=) g.90967594A>G - NBN_000041 rs1057521491 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1387A>G r.(?) p.(Thr463Ala) g.90967521T>C - NBN_000019 rs745821964 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1465C>T r.(?) p.(Leu489Phe) g.90965852G>A - NBN_000020 rs143948240 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1589C>G r.(?) p.(Ser530Cys) g.90965728G>C - NBN_000001 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1690G>A r.(?) p.(Glu564Lys) g.90965627C>T - NBN_000038  rs72550742 - Germline - - - - Despoina Kalfakakou
?/? 6 - c.1720T>A r.(?) p.(Leu574Ile) g.90965597A>T - NBN_000008 rs142334798 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.1754A>G r.(?) p.(Glu585Gly) g.90965563T>C - NBN_000031 rs763926389 - Germline - - - - Despoina Kalfakakou
?/? 3 - c.1915-24C>T r.(=) p.(=) g.90958547G>A - NBN_000007 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1915-22A>G r.(=) p.(=) g.90958545T>C - NBN_000037 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.1919A>G r.(?) p.(Asn640Ser) g.90958519T>C - NBN_000006 rs748073091 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1931A>G r.(?) p.(Gln644Arg) g.90958507T>C - NBN_000005 rs1554556598 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.2029G>A r.(?) p.(Asp677Asn) g.90958409C>T - NBN_000040 rs730881856 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2060A>C r.(?) p.(Lys687Thr) g.90958378T>G - NBN_000053 rs186371605 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2071-6C>G r.(=) p.(=) g.90955600G>C - NBN_000018 - - Germline - - - - Despoina Kalfakakou
+/+ 3 - c.2140C>T r.(?) p.(Arg714*) g.90955525G>A - NBN_000054 rs730881864 - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.2149A>T r.(?) p.(Thr717Ser) g.90955516T>A - NBN_000058 rs587780093 - Germline - - - - Despoina Kalfakakou
?/? 8 - c.2164T>G r.(?) p.(Trp722Gly) g.90955501A>C - NBN_000015 - - Germline ? - - - Despoina Kalfakakou
-?/-? 4 - c.2202A>G r.(=) p.(=) g.90949286T>C - NBN_000014  rs200452212 - Germline - - - - Despoina Kalfakakou
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