Unique variants in gene PRF1

Information The variants shown are described using the 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     
?/? 1 - c.3G>A r.? p.? g.72360656C>T - PRF1_000027 rs758728749 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.46C>A r.(?) p.(Pro16Thr) g.72360613G>T - PRF1_000037 - - Germline - - - - Despoina Kalfakakou
?/? 4 - c.54C>T r.(=) p.(=) g.72360605G>A - PRF1_000011 rs762553478 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.55G>A r.(?) p.(Val19Ile) g.72360604C>T - PRF1_000010 rs772896823 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.65C>T r.(?) p.(Pro22Leu) g.72360594G>A - PRF1_000030 rs528937278 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.79G>A r.(?) p.(Ala27Thr) g.72360580C>T - PRF1_000038 rs147051158 - Germline - - - - Despoina Kalfakakou
-?/-? 8 - c.82C>T r.(?) p.(Arg28Cys) g.72360577G>A - PRF1_000009 rs141660796 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.132C>T r.(=) p.(=) g.72360527G>A - PRF1_000008 rs181323749 - Germline - - - - Despoina Kalfakakou
+?/+? 1 - c.160C>T r.(?) p.(Arg54Cys) g.72360499G>A - PRF1_000024 rs200430442 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.207C>T r.(=) p.(=) g.72360452G>A - PRF1_000007 rs1341038454 - Germline - - - - Despoina Kalfakakou
?/? 3 - c.210C>T r.(=) p.(=) g.72360449G>A - PRF1_000013 rs202134601 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.258G>C r.(?) p.(Gln86His) g.72360401C>G - PRF1_000021 rs1564725354 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.260G>A r.(?) p.(Arg87His) g.72360399C>T - PRF1_000022 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.310C>T r.(?) p.(Arg104Cys) g.72360349G>A - PRF1_000012 - - Germline - - - - Despoina Kalfakakou
-?/-? 12 - c.368G>A r.(?) p.(Arg123His) g.72360291C>T - PRF1_000006 rs139336186 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.376C>T r.(?) p.(Arg126Cys) g.72360283G>A - PRF1_000036 rs34279237 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.444C>T r.(=) p.(=) g.72360215G>A - PRF1_000015 rs61737403 - Germline - - - - Despoina Kalfakakou
-?/-? 13 - c.519G>A r.(=) p.(=) g.72360140C>T - PRF1_000005 rs112883709 - Germline - - - - Despoina Kalfakakou
?/? 6 - c.529C>T r.(?) p.(Arg177Cys) g.72360130G>A - PRF1_000004 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.591C>T r.(=) p.(=) g.72358886G>A - PRF1_000035 rs767273601 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.631G>A r.(?) p.(Ala211Thr) g.72358846C>T - PRF1_000020 rs762026835 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.632C>T r.(?) p.(Ala211Val) g.72358845G>A - PRF1_000003 rs368524364 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.666C>A r.(?) p.(His222Gln) g.72358811G>T - PRF1_000034 rs751247865 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.674G>A r.(?) p.(Arg225Gln) g.72358803C>T - PRF1_000041 rs140281371 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.682G>A r.(?) p.(Glu228Lys) g.72358795C>T - PRF1_000031 rs762455764 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.718C>T r.(?) p.(Arg240Cys) g.72358759G>A - PRF1_000026 rs754850577 - Germline - - - - Despoina Kalfakakou
-?/-? 37 - c.755A>G r.(?) p.(Asn252Ser) g.72358722T>C - PRF1_000014 rs28933375 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.819T>C r.(=) p.(=) g.72358658A>G - PRF1_000023 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.820G>A r.(?) p.(Ala274Thr) g.72358657C>T - PRF1_000028 - - Germline - - - - Despoina Kalfakakou
+/+ 3 - c.853_855del r.(?) p.(Lys285del) g.72358622_72358624del - PRF1_000040 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.903G>A r.(=) p.(=) g.72358574C>T - PRF1_000025 rs763207236 - Germline - - - - Despoina Kalfakakou
-?/-? 8 - c.1000G>A r.(?) p.(Gly334Ser) g.72358477C>T - PRF1_000002 rs145463632 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.1070G>A r.(?) p.(Arg357Gln) g.72358407C>T - PRF1_000019 rs140787739 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.1122G>A r.(?) p.(Trp374*) g.72358355C>T - PRF1_000018 rs104894176 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.1229G>A r.(?) p.(Arg410Gln) g.72358248C>T - PRF1_000029 rs150558419 - Germline - - - - Despoina Kalfakakou
?/? 7 - c.1262T>G r.(?) p.(Phe421Cys) g.72358215A>C - PRF1_000017 rs200534908 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1310C>T r.(?) p.(Ala437Val) g.72358167G>A - PRF1_000033 rs138126912 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1323C>T r.(=) p.(=) g.72358154G>A - PRF1_000039 rs1402212883 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1370A>T r.(?) p.(Asn457Ile) g.72358107T>A - PRF1_000032 - - Germline - - - - Despoina Kalfakakou
-/- 8 - c.1620A>G r.(=) p.(=) g.72357857T>C - PRF1_000001 rs149776121 - Germline - - - - Despoina Kalfakakou
?/? 34 - c.*46T>C r.(=) p.(=) g.72357763A>G - PRF1_000016 rs140956842 - Germline - - - - Despoina Kalfakakou
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