All transcript variants in gene FAM133A

Information The variants shown are described using the NM_173698.2 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

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     
-?/. - c.-2328C>A r.(?) p.(=) - likely benign g.92927190C>A g.93672191C>A NAP1L3(NM_004538.5):c.1114G>T (p.V372L) - NAP1L3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-2140T>C r.(?) p.(=) - likely benign g.92927378T>C g.93672379T>C NAP1L3(NM_004538.5):c.926A>G (p.(Lys309Arg)) - NAP1L3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-2069A>G r.(?) p.(=) - likely benign g.92927449A>G g.93672450A>G NAP1L3(NM_004538.5):c.855T>C (p.P285=) - NAP1L3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-1395_-1390del r.(?) p.(=) - VUS g.92928123_92928128del g.93673124_93673129del NAP1L3(NM_004538.5):c.190_195del (p.(Ser64_Ser65del)) - NAP1L3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.-1389_-1387dup r.(?) p.(=) - likely benign g.92928129_92928131dup g.93673130_93673132dup NAP1L3(NM_004538.5):c.177_178insGGC (p.(Gly59dup)) - NAP1L3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-1383_-1357del r.(?) p.(=) - likely benign g.92928135_92928161del g.93673136_93673162del NAP1L3(NM_004538.5):c.148_174del (p.(Ser50_Ser58del)) - NAP1L3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-1266C>A r.(?) p.(=) - VUS g.92928252C>A g.93673253C>A NAP1L3(NM_004538.5):c.52G>T (p.(Ala18Ser)) - NAP1L3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-103-166A>G r.(=) p.(=) - VUS g.92964150A>G g.93709151A>G - - FAM133A_000001 - - - - Germline - - - - - Yu Sun
?/. - c.-103-166A>G r.(=) p.(=) - VUS g.92964150A>G g.93709151A>G - - FAM133A_000001 - - - - Germline - - - - - Yu Sun
-?/. - c.67A>G r.(?) p.(Thr23Ala) - likely benign g.92964485A>G g.93709486A>G FAM133A(NM_001171110.1):c.67A>G (p.T23A) - FAM133A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. 4 c.199G>A r.(?) p.(Glu67Lys) - VUS g.92964617G>A g.93709618G>A E67K - FAM133A_000005 recurrent, found 12 times PubMed: Tarpey 2009 - - Germline - 12/208 cases - 0 - Lucy Raymond
-?/. - c.369G>C r.(?) p.(Glu123Asp) - likely benign g.92964787G>C g.93709788G>C FAM133A(NM_001171109.1):c.369G>C (p.(Glu123Asp)) - FAM133A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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