Unique variants in gene NSD1

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

102 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. 1 - c.-5del r.(=) p.(=) g.176562167del - NSD1_000083 - - - - Despoina Kalfakakou
./. 1 - c.39A>C r.(=) p.(=) g.176562950A>C - NSD1_000098 - - - - Despoina Kalfakakou
./. 1 - c.54T>C r.(=) p.(=) g.176562965T>C - NSD1_000088 - - - - Despoina Kalfakakou
./. 1 - c.120+30A>G r.(=) p.(=) g.176563061A>G - NSD1_000072 - - - - Despoina Kalfakakou
./. 2 - c.121-21C>T r.(=) p.(=) g.176618864C>T - NSD1_000023 - - - - Despoina Kalfakakou
./. 1 - c.140C>A r.(?) p.(Ser47Tyr) g.176618904C>A - NSD1_000028 - - - - Despoina Kalfakakou
./. 1 - c.273C>T r.(=) p.(=) g.176631137C>T - NSD1_000073 - - - - Despoina Kalfakakou
./. 1 - c.304G>A r.(?) p.(Asp102Asn) g.176631168G>A - NSD1_000029 - - - - Despoina Kalfakakou
./. 1 - c.352G>C r.(?) p.(Glu118Gln) g.176631216G>C - NSD1_000053 - - - - Despoina Kalfakakou
./. 1 - c.430-51C>G r.(=) p.(=) g.176636586C>G - NSD1_000044 - - - - Despoina Kalfakakou
./. 1 - c.430-40C>T r.(=) p.(=) g.176636597C>T - NSD1_000052 - - - - Despoina Kalfakakou
./. 1 - c.575C>T r.(?) p.(Thr192Ile) g.176636782C>T - NSD1_000048 - - - - Despoina Kalfakakou
./. 1 - c.647A>C r.(?) p.(His216Pro) g.176636854A>C - NSD1_000100 - - - - Despoina Kalfakakou
./. 1 - c.714A>C r.(?) p.(Lys238Asn) g.176636921A>C - NSD1_000082 - - - - Despoina Kalfakakou
./. 1 - c.748G>A r.(?) p.(Glu250Lys) g.176636955G>A - NSD1_000043 - - - - Despoina Kalfakakou
./. 9 - c.751G>A r.(?) p.(Ala251Thr) g.176636958G>A - NSD1_000038 - - - - Despoina Kalfakakou
./. 1 - c.839A>C r.(?) p.(Asn280Thr) g.176637046A>C - NSD1_000024 - - - - Despoina Kalfakakou
./. 1 - c.975T>C r.(=) p.(=) g.176637182T>C - NSD1_000081 - - - - Despoina Kalfakakou
./. 1 - c.997T>C r.(?) p.(Cys333Arg) g.176637204T>C - NSD1_000091 - - - - Despoina Kalfakakou
./. 2 - c.1004G>T r.(?) p.(Arg335Leu) g.176637211G>T - NSD1_000047 rs61744451 - - - Despoina Kalfakakou
./. 1 - c.1088G>A r.(?) p.(Arg363Gln) g.176637295G>A - NSD1_000097 - - - - Despoina Kalfakakou
./. 1 - c.1153C>A r.(?) p.(His385Asn) g.176637360C>A - NSD1_000089 - - - - Despoina Kalfakakou
./. 1 - c.1266C>T r.(=) p.(=) g.176637473C>T - NSD1_000022 - - - - Despoina Kalfakakou
./. 8 - c.1284A>G r.(=) p.(=) g.176637491A>G - NSD1_000039 - - - - Despoina Kalfakakou
./. 1 - c.1367C>G r.(?) p.(Thr456Arg) g.176637574C>G - NSD1_000027 - - - - Despoina Kalfakakou
./. 2 - c.1453A>G r.(?) p.(Lys485Glu) g.176637660A>G - NSD1_000015 - - - - Despoina Kalfakakou
./. 1 - c.1489T>G r.(?) p.(Ser497Ala) g.176637696T>G - NSD1_000096 - - - - Despoina Kalfakakou
./. 6 - c.1532C>T r.(?) p.(Ser511Leu) g.176637739C>T - NSD1_000051 - - - - Despoina Kalfakakou
./. 1 - c.1597G>A r.(?) p.(Glu533Lys) g.176637804G>A - NSD1_000040 - - - - Despoina Kalfakakou
./. 1 - c.2015G>A r.(?) p.(Arg672His) g.176638222G>A - NSD1_000079 - - - - Despoina Kalfakakou
./. 3 - c.2028T>C r.(=) p.(=) g.176638235T>C - NSD1_000004 - - - - Despoina Kalfakakou
./. 1 - c.2107A>G r.(?) p.(Thr703Ala) g.176638314A>G - NSD1_000080 - - - - Despoina Kalfakakou
./. 1 - c.2250C>A r.(=) p.(=) g.176638457C>A - NSD1_000064 - - - - Despoina Kalfakakou
./. 2 - c.2281T>C r.(=) p.(=) g.176638488T>C - NSD1_000085 rs61756006 - - - Despoina Kalfakakou
./. 1 - c.2285G>A r.(?) p.(Arg762Gln) g.176638492G>A - NSD1_000046 - - - - Despoina Kalfakakou
./. 5 - c.2479C>T r.(?) p.(His827Tyr) g.176638686C>T - NSD1_000016 - - - - Despoina Kalfakakou
./. 5 - c.2523C>T r.(=) p.(=) g.176638730C>T - NSD1_000030 - - - - Despoina Kalfakakou
./. 1 - c.2595C>T r.(=) p.(=) g.176638802C>T - NSD1_000084 - - - - Despoina Kalfakakou
./. 2 - c.2693G>A r.(?) p.(Arg898His) g.176638900G>A - NSD1_000054 - - - - Despoina Kalfakakou
./. 1 - c.2737A>T r.(?) p.(Asn913Tyr) g.176638944A>T - NSD1_000075 - - - - Despoina Kalfakakou
./. 1 - c.2855A>G r.(?) p.(Gln952Arg) g.176639062A>G - NSD1_000041 - - - - Despoina Kalfakakou
./. 1 - c.2917G>A r.(?) p.(Ala973Thr) g.176639124G>A - NSD1_000095 - - - - Despoina Kalfakakou
./. 1 - c.2932A>G r.(?) p.(Met978Val) g.176639139A>G - NSD1_000005 - - - - Despoina Kalfakakou
./. 1 - c.3496-10T>C r.(=) p.(=) g.176671186T>C - NSD1_000055 - - - - Despoina Kalfakakou
./. 4 - c.3496-8A>G r.(=) p.(=) g.176671188A>G - NSD1_000042 - - - - Despoina Kalfakakou
./. 5 - c.3521A>G r.(?) p.(Asn1174Ser) g.176671221A>G - NSD1_000017 - - - - Despoina Kalfakakou
./. 17 - c.3571+26C>T r.(=) p.(=) g.176671297C>T - NSD1_000018 - - - - Despoina Kalfakakou
./. 1 - c.3651G>A r.(=) p.(=) g.176673758G>A - NSD1_000019 - - - - Despoina Kalfakakou
./. 1 - c.3690+15C>A r.(=) p.(=) g.176673812C>A - NSD1_000074 - - - - Despoina Kalfakakou
./. 1 - c.3690+52C>T r.(=) p.(=) g.176673849C>T - NSD1_000020 - - - - Despoina Kalfakakou
./. 1 - c.3691-49G>T r.(=) p.(=) g.176675133G>T - NSD1_000093 - - - - Despoina Kalfakakou
./. 1 - c.3756C>T r.(=) p.(=) g.176675247C>T - NSD1_000021 - - - - Despoina Kalfakakou
./. 1 - c.3858G>A r.(=) p.(=) g.176678754G>A - NSD1_000071 - - - - Despoina Kalfakakou
./. 1 - c.3897G>C r.(=) p.(=) g.176678793G>C - NSD1_000065 - - - - Despoina Kalfakakou
./. 2 - c.3958+19G>A r.(=) p.(=) g.176678873G>A - NSD1_000003 - - - - Despoina Kalfakakou
./. 1 - c.3959-48T>C r.(=) p.(=) g.176683904T>C - NSD1_000076 - - - - Despoina Kalfakakou
./. 1 - c.3959-22T>G r.(=) p.(=) g.176683930T>G - NSD1_000086 - - - - Despoina Kalfakakou
./. 1 - c.4159+6G>A r.(=) p.(=) g.176684158G>A - NSD1_000035 - - - - Despoina Kalfakakou
./. 2 - c.4200C>T r.(=) p.(=) g.176687030C>T - NSD1_000070 - - - - Despoina Kalfakakou
./. 1 - c.4340-49A>G r.(=) p.(=) g.176694514A>G - NSD1_000061 rs74436451 - - - Despoina Kalfakakou
./. 1 - c.4405A>G r.(?) p.(Ile1469Val) g.176694628A>G - NSD1_000087 - - - - Despoina Kalfakakou
./. 1 - c.4463G>A r.(?) p.(Arg1488Lys) g.176694686G>A - NSD1_000058 - - - - Despoina Kalfakakou
./. 1 - c.4497-40G>A r.(=) p.(=) g.176696563G>A - NSD1_000092 - - - - Despoina Kalfakakou
./. 1 - c.4703-13T>C r.(=) p.(=) g.176700660T>C - NSD1_000036 - - - - Despoina Kalfakakou
./. 1 - c.4703-12C>A r.(=) p.(=) g.176700661C>A - NSD1_000033 - - - - Despoina Kalfakakou
./. 1 - c.4703-4A>G r.spl? p.? g.176700669A>G - NSD1_000069 - - - - Despoina Kalfakakou
./. 1 - c.4764G>T r.(=) p.(=) g.176700734G>T - NSD1_000037 - - - - Despoina Kalfakakou
./. 12 - c.4974C>G r.(=) p.(=) g.176707724C>G - NSD1_000002 rs61749654 - - - Despoina Kalfakakou
./. 1 - c.5085+52T>G r.(=) p.(=) g.176707887T>G - NSD1_000068 - - - - Despoina Kalfakakou
./. 1 - c.5203-22G>T r.(=) p.(=) g.176710766G>T - NSD1_000014 - - - - Despoina Kalfakakou
./. 1 - c.5232A>T r.(=) p.(=) g.176710817A>T - NSD1_000090 - - - - Despoina Kalfakakou
./. 13 - c.5345-50del r.(=) p.(=) g.176715770del - NSD1_000006 - - - - Despoina Kalfakakou
./. 1 - c.5452-20G>A r.(=) p.(=) g.176718935G>A - NSD1_000101 - - - - Despoina Kalfakakou
./. 1 - c.5468C>T r.(?) p.(Thr1823Met) g.176718971C>T - NSD1_000034 - - - - Despoina Kalfakakou
./. 1 - c.5469G>A r.(=) p.(=) g.176718972G>A - NSD1_000067 - - - - Despoina Kalfakakou
./. 2 - c.5601A>G r.(=) p.(=) g.176719104A>G - NSD1_000007 - - - - Despoina Kalfakakou
./. 3 - c.5637T>C r.(=) p.(=) g.176719140T>C - NSD1_000008 - - - - Despoina Kalfakakou
./. 1 - c.5694C>T r.(=) p.(=) g.176720870C>T - NSD1_000078 - - - - Despoina Kalfakakou
./. 1 - c.5856T>C r.(=) p.(=) g.176721032T>C - NSD1_000056 - - - - Despoina Kalfakakou
./. 1 - c.5939A>G r.(?) p.(Lys1980Arg) g.176721115A>G - NSD1_000062 - - - - Despoina Kalfakakou
./. 1 - c.6064C>T r.(?) p.(Gln2022*) g.176721240C>T - NSD1_000026 - - - - Despoina Kalfakakou
./. 1 - c.6066G>T r.(?) p.(Gln2022His) g.176721242G>T - NSD1_000025 - - - - Despoina Kalfakakou
./. 2 - c.6080T>C r.(?) p.(Val2027Ala) g.176721256T>C - NSD1_000031 - - - - Despoina Kalfakakou
./. 1 - c.6140T>C r.(?) p.(Leu2047Pro) g.176721316T>C - NSD1_000050 - - - - Despoina Kalfakakou
./. 1 - c.6251C>A r.(?) p.(Pro2084His) g.176721427C>A - NSD1_000032 - - - - Despoina Kalfakakou
./. 1 - c.6260C>T r.(?) p.(Thr2087Met) g.176721436C>T - NSD1_000059 - - - - Despoina Kalfakakou
./. 1 - c.6269C>T r.(?) p.(Pro2090Leu) g.176721445C>T - NSD1_000094 - - - - Despoina Kalfakakou
./. 2 - c.6330A>G r.(=) p.(=) g.176721506A>G - NSD1_000009 - - - - Despoina Kalfakakou
./. 1 - c.6353C>T r.(?) p.(Pro2118Leu) g.176721529C>T - NSD1_000010 - - - - Despoina Kalfakakou
./. 1 - c.6438C>G r.(=) p.(=) g.176721614C>G - NSD1_000011 - - - - Despoina Kalfakakou
./. 1 - c.6545G>A r.(?) p.(Arg2182Lys) g.176721721G>A - NSD1_000012 - - - - Despoina Kalfakakou
./. 1 - c.6550G>C r.(?) p.(Ala2184Pro) g.176721726G>C - NSD1_000049 - - - - Despoina Kalfakakou
./. 2 - c.6560T>C r.(?) p.(Met2187Thr) g.176721736T>C - NSD1_000057 - - - - Despoina Kalfakakou
./. 1 - c.6768C>T r.(=) p.(=) g.176721944C>T - NSD1_000066 - - - - Despoina Kalfakakou
./. 1 - c.6915G>A r.(=) p.(=) g.176722091G>A - NSD1_000013 - - - - Despoina Kalfakakou
./. 1 - c.6932C>T r.(?) p.(Ala2311Val) g.176722108C>T - NSD1_000063 - - - - Despoina Kalfakakou
./. 1 - c.7043T>C r.(?) p.(Leu2348Ser) g.176722219T>C - NSD1_000045 rs77618751 - - - Despoina Kalfakakou
./. 9 - c.7101C>T r.(=) p.(=) g.176722277C>T - NSD1_000001 - - - - Despoina Kalfakakou
./. 1 - c.7165T>C r.(=) p.(=) g.176722341T>C - NSD1_000099 - - - - Despoina Kalfakakou
./. 2 - c.7179C>T r.(=) p.(=) g.176722355C>T - NSD1_000077 - - - - Despoina Kalfakakou
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