Unique variants in gene FANCG

Information The variants shown are described using the NM_004629.1 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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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     
-/- 20 - c.20C>T r.(?) p.(Ser7Phe) g.35079502G>A - FANCG_000006 rs35984312 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.65G>A r.(?) p.(Arg22Gln) g.35079457C>T - FANCG_000014 - - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.76C>T r.(?) p.(Gln26*) g.35079446G>A - FANCG_000024 - - Germline - - - - Despoina Kalfakakou
-/- 3 - c.77A>G r.(?) p.(Gln26Arg) g.35079445T>C - FANCG_000020 rs200677800 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.85-18C>T r.(=) p.(=) g.35079256G>A - FANCG_000026 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.138A>C r.(=) p.(=) g.35079185T>G - FANCG_000041 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.308-11A>G r.(=) p.(=) g.35078351T>C - FANCG_000027 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.421C>T r.(?) p.(Arg141Cys) g.35078227G>A - FANCG_000002 rs201153812 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.486A>T r.(?) p.(Leu162Phe) g.35078162T>A - FANCG_000029 rs779677132 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.646+12A>G r.(=) p.(=) g.35077249T>C - FANCG_000018 rs17878604 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.647-16C>A r.(=) p.(=) g.35077114G>T - FANCG_000033 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.819G>A r.(=) p.(=) g.35076826C>T - FANCG_000032 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.924+31G>A r.(=) p.(=) g.35076690C>T - FANCG_000037 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.925-50A>C r.(=) p.(=) g.35076630T>G - FANCG_000013 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.925-23C>A r.(=) p.(=) g.35076603G>T - FANCG_000001 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.955C>A r.(?) p.(Pro319Thr) g.35076550G>T - FANCG_000025 rs1459299398 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.1076+36C>T r.(=) p.(=) g.35076393G>A - FANCG_000030 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1120T>C r.(=) p.(=) g.35075982A>G - FANCG_000005 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.1192T>C r.(=) p.(=) g.35075703A>G - FANCG_000012 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1260G>C r.(?) p.(Leu420Phe) g.35075635C>G - FANCG_000003 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1297C>T r.(?) p.(Arg433Trp) g.35075598G>A - FANCG_000017 rs183777537 - Germline - - - - Despoina Kalfakakou
?/? 5 - c.1367A>T r.(?) p.(His456Leu) g.35075528T>A - FANCG_000004 rs148808709 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1480+40T>C r.(=) p.(=) g.35075236A>G - FANCG_000035 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1481-36G>A r.(=) p.(=) g.35075115C>T - FANCG_000007 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1481-23T>C r.(=) p.(=) g.35075102A>G - FANCG_000021 - - Germline - - - - Despoina Kalfakakou
?/? 3 - c.1492A>C r.(?) p.(Asn498His) g.35075068T>G - FANCG_000015 rs748364103 - Germline - - - - Despoina Kalfakakou
?/? 3 - c.1498G>A r.(?) p.(Glu500Lys) g.35075062C>T - FANCG_000036 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1544C>T r.(?) p.(Ala515Val) g.35075016G>A - FANCG_000011 rs1234056214 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1545C>T r.(=) p.(=) g.35075015G>A - FANCG_000016 rs201422773 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1614C>A r.(=) p.(=) g.35074946G>T - FANCG_000031 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1637-27A>G r.(=) p.(=) g.35074518T>C - FANCG_000039 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1637-24C>G r.(=) p.(=) g.35074515G>C - FANCG_000010 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1637-24_1637-23del r.(=) p.(=) g.35074514_35074515del - FANCG_000023 rs56217414 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1638T>C r.(=) p.(=) g.35074490A>G - FANCG_000019 rs45537335 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1700C>T r.(?) p.(Ala567Val) g.35074428G>A - FANCG_000038 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1761-51C>T r.(=) p.(=) g.35074264G>A - FANCG_000040 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1761-44C>T r.(=) p.(=) g.35074257G>A - FANCG_000034 - - Germline - - - - Despoina Kalfakakou
?/? 4 - c.1761-28C>A r.(=) p.(=) g.35074241G>T - FANCG_000009 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1761G>T r.(?) p.(Trp587Cys) g.35074213C>A - FANCG_000022 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1801C>T r.(?) p.(Arg601Cys) g.35074173G>A - FANCG_000008 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1814G>A r.(?) p.(Arg605His) g.35074160C>T - FANCG_000028 - - Germline - - - - Despoina Kalfakakou
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