Unique variants in gene FAM133A

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

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.-2328C>A likely benign r.(?) p.(=) g.92927190C>A - NAP1L3(NM_004538.5):c.1114G>T (p.V372L) - NAP1L3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-2140T>C likely benign r.(?) p.(=) g.92927378T>C - NAP1L3(NM_004538.5):c.926A>G (p.(Lys309Arg)) - NAP1L3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-1404T>C likely benign r.(?) p.(=) g.92928114T>C - NAP1L3(NM_004538.5):c.190A>G (p.(Ser64Gly)) - NAP1L3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-1395_-1390del VUS r.(?) p.(=) g.92928123_92928128del - NAP1L3(NM_004538.5):c.190_195del (p.(Ser64_Ser65del)) - NAP1L3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-1391_-1390insGCC likely benign r.(?) p.(=) g.92928127_92928128insGCC - NAP1L3(NM_004538.5):c.177_178insGGC (p.(Gly59dup)) - NAP1L3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-1383_-1357del likely benign r.(?) p.(=) g.92928135_92928161del - NAP1L3(NM_004538.5):c.148_174del (p.(Ser50_Ser58del)) - NAP1L3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-1288G>C likely benign r.(?) p.(=) g.92928230G>C - NAP1L3(NM_004538.5):c.74C>G (p.(Ser25Trp)) - NAP1L3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-1266C>A VUS r.(?) p.(=) g.92928252C>A - NAP1L3(NM_004538.5):c.52G>T (p.(Ala18Ser)) - NAP1L3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.-103-166A>G - - p.(=) g.92964150A>G g.93709151A>G - - FAM133A_000001 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.67A>G likely benign r.(?) p.(Thr23Ala) g.92964485A>G - FAM133A(NM_001171110.1):c.67A>G (p.T23A) - FAM133A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 4 c.199G>A - r.(?) p.(Glu67Lys) g.92964617G>A - E67K - FAM133A_000005 recurrent, found 12 times PubMed: Tarpey 2009 - - Germline - 12/208 cases - - - Lucy Raymond
-?/. 1 - c.369G>C likely benign r.(?) p.(Glu123Asp) g.92964787G>C - FAM133A(NM_001171109.1):c.369G>C (p.(Glu123Asp)) - FAM133A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.419A>C likely benign r.(?) p.(Lys140Thr) g.92964837A>C - FAM133A(NM_001171109.1):c.419A>C (p.(Lys140Thr)) - FAM133A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.703A>T VUS r.(?) p.(Lys235*) g.92965121A>T - FAM133A(NM_001171109.1):c.703A>T (p.(Lys235Ter)) - FAM133A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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