Unique variants in the NXF3 gene

Information The variants shown are described using the NM_022052.1 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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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     
-?/. 1 - c.22A>G r.(?) p.(Thr8Ala) - likely benign g.102347930T>C g.103093002T>C NXF3(NM_022052.1):c.22A>G (p.T8A) - NXF3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.150T>C r.(=) p.(=) - likely benign g.102339690A>G g.103084762A>G D50D - NXF3_000010 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 2 - c.197+37A>G r.(=) p.(=) - VUS g.102339606T>C g.103084678T>C - - NXF3_000001 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.268A>C r.(?) p.(Met90Leu) - likely benign g.102339353T>G - NXF3(NM_022052.1):c.268A>C (p.M90L) - NXF3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.309G>C r.(?) p.(Gly103=) - likely benign g.102339312C>G - NXF3(NM_022052.1):c.309G>C (p.G103=) - NXF3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.318G>A r.(=) p.(=) - likely benign g.102339303C>T g.103084375C>T P106P - NXF3_000009 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.447A>C r.(?) p.(Glu149Asp) - likely benign g.102338419T>G g.103083491T>G NXF3(NM_022052.1):c.447A>C (p.E149D) - NXF3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.541-3C>A r.spl? p.? - likely benign g.102338204G>T g.103083276G>T NXF3(NM_022052.1):c.541-3C>A (p.?) - NXF3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.557A>T r.(?) p.(Asn186Ile) - likely benign g.102338185T>A - NXF3(NM_022052.1):c.557A>T (p.(Asn186Ile)) - NXF3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.811A>G r.(?) p.(Lys271Glu) - likely benign g.102337262T>C - NXF3(NM_022052.1):c.811A>G (p.K271E) - NXF3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.815G>A r.(?) p.(Gly272Glu) - likely benign g.102337258C>T g.103082330C>T NXF3(NM_022052.1):c.815G>A (p.G272E) - NXF3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1069G>T r.(?) p.(Asp357Tyr) - VUS g.102334782C>A g.103079854C>A NXF3(NM_022052.1):c.1069G>T (p.(Asp357Tyr)) - NXF3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1147del r.(?) p.(Glu383ArgfsTer18) - VUS g.102334704del g.103079776del NXF3(NM_022052.1):c.1147del (p.?) - NXF3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1160C>T r.(?) p.(Pro387Leu) - likely benign g.102334691G>A g.103079763G>A NXF3(NM_022052.1):c.1160C>T (p.P387L) - NXF3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1226G>A r.(?) p.(Arg409Gln) - VUS g.102334396C>T g.103079468C>T NXF3(NM_022052.1):c.1226G>A (p.(Arg409Gln)) - NXF3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1277C>T r.(?) p.(Ala426Val) - VUS g.102334345G>A g.103079417G>A NXF3(NM_022052.1):c.1277C>T (p.(Ala426Val)) - NXF3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1573C>T r.(?) p.(Gln525*) - VUS g.102332553G>A - NXF3(NM_022052.1):c.1573C>T (p.Q525*) - NXF3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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