Unique variants in the NXF5 gene

Information The variants shown are described using the NM_032946.2 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. 2 - c.-287-3171T>C r.(=) p.(=) - VUS g.101101448A>G g.101846476A>G - - NXF5_000022 - - - - Germline - - - - - Yu Sun
?/. 2 - c.-287-2712G>A r.(=) p.(=) - VUS g.101100989C>T g.101846017C>T - - NXF5_000019 - - - - Germline - - - - - Yu Sun
?/. 2 - c.-287-99A>G r.(=) p.(=) - VUS g.101098376T>C g.101843404T>C - - NXF5_000016 - - - - Germline - - - - - Yu Sun
-?/., ?/. 3 - c.7C>T r.(?) p.(Arg3Trp) - likely benign, VUS g.101097758G>A g.101842786G>A NXF5(NM_032946.2):c.7C>T (p.R3W, p.(Arg3Trp)) - NXF5_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.8G>A r.(?) p.(Arg3Gln) - likely benign g.101097757C>T g.101842785C>T NXF5(NM_032946.2):c.8G>A (p.R3Q) - NXF5_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.52-290G>A r.(=) p.(=) - VUS g.101097235C>T g.101842263C>T - - NXF5_000013 - - - - Germline - - - - - Yu Sun
?/. 1 - c.67A>G r.(?) p.(Lys23Glu) - VUS g.101096930T>C g.101841958T>C - - NXF5_000033 recurrent, found 5 times PubMed: Tarpey 2009 - - Germline - 5/208 cases - - - Lucy Raymond
-?/. 1 - c.145A>G r.(?) p.(Ile49Val) - likely benign g.101096741T>C g.101841769T>C NXF5(NM_032946.2):c.145A>G (p.(Ile49Val)) - NXF5_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.287A>G r.(?) p.(Asn96Ser) - likely benign g.101096484T>C g.101841512T>C NXF5(NM_032946.2):c.287A>G (p.(Asn96Ser)) - NXF5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.322-3C>T r.spl? p.? - likely benign g.101096305G>A - NXF5(NM_032946.2):c.322-3C>T - NXF5_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.333C>G r.(?) p.(Asn111Lys) - likely benign g.101096291G>C g.101841319G>C NXF5(NM_032946.2):c.333C>G (p.N111K) - NXF5_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.337C>T r.(?) p.(Arg113Trp) - VUS g.101096287G>A g.101841315G>A NXF5(NM_032946.2):c.337C>T (p.R113W) - NXF5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.415A>G r.(?) p.(Ile139Val) - likely benign g.101096053T>C g.101841081T>C NXF5(NM_032946.2):c.415A>G (p.I139V, p.(Ile139Val)) - NXF5_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.499T>C r.(?) p.(Cys167Arg) - likely benign g.101095849A>G g.101840877A>G NXF5(NM_032946.2):c.499T>C (p.(Cys167Arg)) - NXF5_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.698+8G>A r.(=) p.(=) - likely benign g.101095463C>T g.101840491C>T NXF5(NM_032946.2):c.698+8G>A (p.(=)) - NXF5_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.699-156G>A r.(=) p.(=) - VUS g.101093954C>T g.101838982C>T - - NXF5_000012 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.738C>T r.(?) p.(Asp246=) - likely benign g.101093380G>A g.101838408G>A NXF5(NM_032946.2):c.738C>T (p.D246=) - NXF5_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 4 - c.860+50dup r.(=) p.(=) - VUS g.101093122dup g.101838150dup - - NXF5_000010, NXF5_000028 - - - - Germline - - - - - Yu Sun
?/. 2 - c.860+123del r.(=) p.(=) - VUS g.101093051del g.101838079del - - NXF5_000008 - - - - Germline - - - - - Yu Sun
?/. 2 - c.860+127del r.(=) p.(=) - VUS g.101093048del g.101838076del - - NXF5_000025 - - - - Germline - - - - - Yu Sun
?/. 2 - c.861-120A>G r.(=) p.(=) - VUS g.101092932T>C g.101837960T>C - - NXF5_000003 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.959G>A r.(?) p.(Arg320Gln) - likely benign g.101092587C>T g.101837615C>T NXF5(NM_032946.2):c.959G>A (p.(Arg320Gln)) - NXF5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1022A>G r.(?) p.(Asp341Gly) - likely benign g.101092524T>C g.101837552T>C NXF5(NM_032946.2):c.1022A>G (p.(Asp341Gly)) - NXF5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 4 - c.1082+1040dup r.(=) p.(=) - VUS g.101091424dup g.101836452dup - - NXF5_000001, NXF5_000027 - - - - Germline - - - - - Yu Sun
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