Unique variants in the LONRF3 gene

Information The variants shown are described using the NM_001031855.1 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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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     
-?/., ./. 3 1 c.42T>C r.(=), r.(?) p.(=) - likely benign, VUS g.118108785T>C g.118974822T>C A14A - LONRF3_000004 recurrent, found 11 times PubMed: Tarpey 2009 - - Germline - 11/208 cases - - - Yu Sun, Lucy Raymond
-?/. 1 - c.148C>T r.(?) p.(Pro50Ser) - likely benign g.118108891C>T g.118974928C>T LONRF3(NM_001031855.2):c.148C>T (p.P50S) - LONRF3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.355G>A r.(?) p.(Glu119Lys) - likely benign g.118109098G>A g.118975135G>A LONRF3(NM_001031855.2):c.355G>A (p.E119K) - LONRF3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 1 c.365C>G r.(?) p.(Ala122Gly) - VUS g.118109108C>G g.118975145C>G A122G - LONRF3_000021 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.421A>G r.(?) p.(Thr141Ala) - likely benign g.118109164A>G g.118975201A>G LONRF3(NM_001031855.1):c.421A>G (p.(Thr141Ala)) - LONRF3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 2 - c.423_427del r.(?) p.(Gly142ArgfsTer14) - likely benign, VUS g.118109166_118109170del g.118975203_118975207del LONRF3(NM_001031855.1):c.423_427del (p.?), LONRF3(NM_001031855.2):c.423_427delGGGGG (p.G142Rfs*14) - LONRF3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.423_437del r.(?) p.(Gly142_Ala146del) - VUS g.118109166_118109180del g.118975203_118975217del LONRF3(NM_001031855.1):c.422_436del (p.?) - LONRF3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.429_438del r.(?) p.(Ala144ArgfsTer56) - VUS g.118109172_118109181del g.118975209_118975218del LONRF3(NM_001031855.1):c.429_438del (p.?) - LONRF3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.558G>A r.(?) p.(Arg186=) - likely benign g.118109301G>A g.118975338G>A LONRF3(NM_001031855.2):c.558G>A (p.R186=) - LONRF3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.562G>T r.(?) p.(Ala188Ser) - VUS g.118109305G>T g.118975342G>T LONRF3(NM_001031855.2):c.562G>T (p.A188S) - LONRF3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 1 c.569G>C r.(?) p.(Arg190Pro) - VUS g.118109312G>C g.118975349G>C R190P - LONRF3_000022 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.638G>A r.(?) p.(Arg213Gln) - VUS g.118109381G>A g.118975418G>A LONRF3(NM_001031855.1):c.638G>A (p.(Arg213Gln)) - LONRF3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.711T>G r.(?) p.(Phe237Leu) - VUS g.118109454T>G - LONRF3(NM_001031855.2):c.711T>G (p.F237L) - LONRF3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 2 c.846T>C r.(?) p.(=) - likely benign g.118112336T>C g.118978373T>C N282N - LONRF3_000023 recurrent, found 5 times PubMed: Tarpey 2009 - - Germline - 5/208 cases - - - Lucy Raymond
-?/. 1 2 c.924G>A r.(?) p.(=) - likely benign g.118112414G>A g.118978451G>A P308P - LONRF3_000024 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.972A>G r.(?) p.(Leu324=) - VUS g.118116819A>G g.118982856A>G LONRF3(NM_001031855.1):c.972A>G (p.(=)) - LONRF3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. 1 - c.1060-2879A>G r.(=) p.(=) - VUS g.118120492A>G g.118986529A>G - - LONRF3_000007 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.1060-2426G>A r.(=) p.(=) - likely benign g.118120945G>A g.118986982G>A LONRF3(NM_001289109.1):c.193G>A (p.D65N) - LONRF3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1157G>A r.(?) p.(Gly386Asp) - likely benign g.118123468G>A g.118989505G>A LONRF3(NM_001031855.2):c.1157G>A (p.G386D) - LONRF3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 2 - c.1325-193C>G r.(=) p.(=) - VUS g.118124240C>G g.118990277C>G - - LONRF3_000008 - - - - Germline - - - - - Yu Sun
./. 2 - c.1415+171G>C r.(=) p.(=) - VUS g.118124694G>C g.118990731G>C - - LONRF3_000011 - - - - Germline - - - - - Yu Sun
-?/. 1 6 c.1428C>T r.(?) p.(=) - likely benign g.118140096C>T - Y476Y - LONRF3_000025 1 more item PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.1716G>A r.(?) p.(Leu572=) - likely benign g.118145841G>A - LONRF3(NM_001031855.2):c.1716G>A (p.L572=) - LONRF3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 2 - c.1812-192C>T r.(=) p.(=) - VUS g.118146810C>T g.119012847C>T - - LONRF3_000001 - - - - Germline - - - - - Yu Sun
-?/. 1 9 c.1911A>G r.(?) p.(=) - likely benign g.118147101A>G - A637A - LONRF3_000026 1 more item PubMed: Tarpey 2009 - - Germline - 74/208 cases - - - Lucy Raymond
?/. 1 - c.1994C>G r.(?) p.(Ala665Gly) - VUS g.118148189C>G g.119014226C>G LONRF3(NM_001031855.2):c.1994C>G (p.A665G) - LONRF3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2062T>A r.(?) p.(Ser688Thr) - VUS g.118148257T>A g.119014294T>A LONRF3(NM_001031855.1):c.2062T>A (p.(Ser688Thr)) - LONRF3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2220A>G r.(?) p.(Leu740=) - likely benign g.118151593A>G - LONRF3(NM_001031855.2):c.2220A>G (p.L740=) - LONRF3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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