All variants in the DDX53 gene

Information The variants shown are described using the NM_182699.3 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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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.-726621C>T r.(?) p.(=) - likely benign g.22291554C>T g.22273437C>T ZNF645(NM_152577.3):c.446C>T (p.S149L) - DDX53_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-726606G>A r.(?) p.(=) - VUS g.22291569G>A g.22273452G>A ZNF645(NM_152577.3):c.461G>A (p.(Arg154His)) - ZNF645_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-726547A>G r.(?) p.(=) - VUS g.22291628A>G g.22273511A>G ZNF645(NM_152577.3):c.520A>G (p.R174G) - ZNF645_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-726542C>T r.(?) p.(=) - likely benign g.22291633C>T - CBLL2(NM_152577.3):c.525C>T (p.D175=) - DDX53_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-726528T>A r.(?) p.(=) - VUS g.22291647T>A g.22273530T>A ZNF645(NM_152577.3):c.539T>A (p.(Ile180Asn)) - ZNF645_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-726336A>G r.(?) p.(=) - VUS g.22291839A>G g.22273722A>G ZNF645(NM_152577.3):c.731A>G (p.Q244R) - ZNF645_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-726219C>T r.(?) p.(=) - likely benign g.22291956C>T g.22273839C>T ZNF645(NM_152577.3):c.848C>T (p.(Ala283Val)) - ZNF645_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-726192T>G r.(?) p.(=) - likely benign g.22291983T>G g.22273866T>G ZNF645(NM_152577.3):c.875T>G (p.(Val292Gly)) - DDX53_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-725859G>A r.(?) p.(=) - VUS g.22292316G>A - CBLL2(NM_152577.3):c.1208G>A (p.R403Q) - DDX53_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.73A>G r.(?) p.(Arg25Gly) - likely benign g.23018247A>G - DDX53(NM_182699.3):c.73A>G (p.R25G) - DDX53_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.319G>T r.(?) p.(Ala107Ser) - benign g.23018493G>T g.23000376G>T DDX53(NM_182699.3):c.319G>T (p.(Ala107Ser)), DDX53(NM_182699.4):c.319G>T (p.A107S) - DDX53_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.319G>T r.(?) p.(Ala107Ser) - likely benign g.23018493G>T g.23000376G>T DDX53(NM_182699.3):c.319G>T (p.(Ala107Ser)), DDX53(NM_182699.4):c.319G>T (p.A107S) - DDX53_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.319G>T r.(?) p.(Ala107Ser) - VUS g.23018493G>T g.23000376G>T - - DDX53_000001 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. - c.490G>A r.(?) p.(Glu164Lys) - likely benign g.23018664G>A g.23000547G>A DDX53(NM_182699.3):c.490G>A (p.(Glu164Lys)) - DDX53_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.490G>A r.(?) p.(Glu164Lys) - VUS g.23018664G>A g.23000547G>A - - DDX53_000003 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. - c.607A>G r.(?) p.(Ile203Val) - likely benign g.23018781A>G g.23000664A>G DDX53(NM_182699.3):c.607A>G (p.I203V) - DDX53_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.861A>G r.(?) p.(Gln287=) - likely benign g.23019035A>G g.23000918A>G DDX53(NM_182699.3):c.861A>G (p.Q287=) - DDX53_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1067T>A r.(?) p.(Leu356Gln) - VUS g.23019241T>A g.23001124T>A DDX53(NM_182699.3):c.1067T>A (p.L356Q) - DDX53_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1074C>T r.(=) p.(=) - likely benign g.23019248C>T g.23001131C>T D358D - DDX53_000008 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
?/. - c.1143G>T r.(?) p.(Met381Ile) - VUS g.23019317G>T g.23001200G>T - - DDX53_000009 recurrent, found 25 times PubMed: Tarpey 2009 - - Germline - 25/208 cases - - - Lucy Raymond
?/. - c.1172G>T r.(?) p.(Arg391Met) - VUS g.23019346G>T g.23001229G>T - - DDX53_000010 recurrent, found 25 times PubMed: Tarpey 2009 - - Germline - 25/208 cases - - - Lucy Raymond
-?/. - c.1194C>T r.(?) p.(Arg398=) - likely benign g.23019368C>T g.23001251C>T DDX53(NM_182699.3):c.1194C>T (p.R398=) - DDX53_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1201C>G r.(?) p.(Arg401Gly) - VUS g.23019375C>G g.23001258C>G DDX53(NM_182699.3):c.1201C>G (p.R401G) - DDX53_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1401C>G r.(?) p.(Asn467Lys) - likely benign g.23019575C>G g.23001458C>G DDX53(NM_182699.3):c.1401C>G (p.(Asn467Lys)) - DDX53_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1406A>T r.(?) p.(Lys469Ile) - VUS g.23019580A>T g.23001463A>T DDX53(NM_182699.3):c.1406A>T (p.(Lys469Ile)) - DDX53_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1757T>C r.(?) p.(Leu586Pro) - VUS g.23019931T>C g.23001814T>C DDX53(NM_182699.3):c.1757T>C (p.L586P) - DDX53_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1846C>T r.(?) p.(Arg616Ter) - VUS g.23020020C>T g.23001903C>T DDX53(NM_182699.3):c.1846C>T (p.(Arg616Ter)) - DDX53_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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