Full data view for gene ZXDA

Information The variants shown are described using the NM_007156.4 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.147C>A r.(?) p.(Gly49=) Unknown - likely benign g.57936708G>T - ZXDA(NM_007156.4):c.147C>A (p.G49=) - ZXDA_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.232C>A r.(?) p.(Pro78Thr) Unknown - likely benign g.57936623G>T g.57910189G>T ZXDA(NM_007156.4):c.232C>A (p.(Pro78Thr)) - ZXDA_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.235C>G r.(?) p.(His79Asp) Unknown - likely benign g.57936620G>C g.57910186G>C ZXDA(NM_007156.4):c.235C>G (p.(His79Asp)) - ZXDA_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.356C>A r.(?) p.(Ala119Glu) Unknown - likely benign g.57936499G>T g.57910065G>T ZXDA(NM_007156.4):c.356C>A (p.A119E) - ZXDA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.388G>A r.(?) p.(Ala130Thr) Unknown - VUS g.57936467C>T g.57910033C>T ZXDA(NM_007156.4):c.388G>A (p.(Ala130Thr)) - ZXDA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.422A>G r.(?) p.(His141Arg) Unknown - likely benign g.57936433T>C g.57909999T>C ZXDA(NM_007156.4):c.422A>G (p.(His141Arg)) - ZXDA_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.491C>T r.(?) p.(Thr164Ile) Unknown - likely benign g.57936364G>A g.57909930G>A ZXDA(NM_007156.4):c.491C>T (p.(Thr164Ile)) - ZXDA_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.568G>C r.(?) p.(Ala190Pro) Unknown - likely benign g.57936287C>G g.57909853C>G ZXDA(NM_007156.4):c.568G>C (p.A190P) - ZXDA_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.624A>C r.(?) p.(Gln208His) Unknown - likely benign g.57936231T>G g.57909797T>G ZXDA(NM_007156.4):c.624A>C (p.(Gln208His)) - ZXDA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.741C>A r.(?) p.(Gly247=) Unknown - likely benign g.57936114G>T g.57909680G>T ZXDA(NM_007156.4):c.741C>A (p.G247=) - ZXDA_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.743T>C r.(?) p.(Leu248Pro) Unknown - likely benign g.57936112A>G g.57909678A>G ZXDA(NM_007156.4):c.743T>C (p.L248P) - ZXDA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.770T>C r.(?) p.(Leu257Pro) Unknown - likely benign g.57936085A>G g.57909651A>G ZXDA(NM_007156.4):c.770T>C (p.(Leu257Pro)) - ZXDA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.784C>T r.(?) p.(Pro262Ser) Unknown - likely benign g.57936071G>A g.57909637G>A ZXDA(NM_007156.4):c.784C>T (p.P262S) - ZXDA_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.790G>T r.(?) p.(Val264Leu) Unknown - likely benign g.57936065C>A g.57909631C>A ZXDA(NM_007156.4):c.790G>T (p.V264L) - ZXDA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.791T>A r.(?) p.(Val264Glu) Unknown - VUS g.57936064A>T g.57909630A>T ZXDA(NM_007156.4):c.791T>A (p.V264E) - ZXDA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1136A>G r.(?) p.(Gln379Arg) Unknown - VUS g.57935719T>C - ZXDA(NM_007156.4):c.1136A>G (p.Q379R) - ZXDA_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1150G>T r.(?) p.(Glu384Ter) Unknown - VUS g.57935705C>A g.57909271C>A ZXDA(NM_007156.4):c.1150G>T (p.(Glu384Ter)) - ZXDA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1155C>T r.(=) p.(=) Parent #1 - likely benign g.57935700G>A g.57909266G>A P385P - ZXDA_000017 recurrent, found 13 times PubMed: Tarpey 2009 - - Germline - 13/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 13 Lucy Raymond
?/. - c.1181C>T r.(?) p.(Ser394Phe) Unknown - VUS g.57935674G>A - ZXDA(NM_007156.4):c.1181C>T (p.S394F) - ZXDA_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1272C>T r.(=) p.(=) Parent #1 - likely benign g.57935583G>A g.57909149G>A F424F - ZXDA_000016 recurrent, found 24 times PubMed: Tarpey 2009 - - Germline - 24/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 24 Lucy Raymond
-?/. - c.1383C>T r.(?) p.(Phe461=) Unknown - likely benign g.57935472G>A g.57909038G>A ZXDA(NM_007156.4):c.1383C>T (p.F461=) - ZXDA_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1772C>A r.(?) p.(Thr591Asn) Unknown - VUS g.57935083G>T g.57908649G>T ZXDA(NM_007156.4):c.1772C>A (p.(Thr591Asn)) - ZXDA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2269G>A r.(?) p.(Val757Ile) Unknown - likely benign g.57934586C>T - ZXDA(NM_007156.4):c.2269G>A (p.V757I) - ZXDA_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2278A>G r.(?) p.(Asn760Asp) Unknown - VUS g.57934577T>C g.57908143T>C ZXDA(NM_007156.4):c.2278A>G (p.(Asn760Asp)) - ZXDA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2278A>G r.(?) p.(Asn760Asp) Parent #1 - VUS g.57934577T>C g.57908143T>C - - ZXDA_000004 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.2278A>T r.(?) p.(Asn760Tyr) Unknown - VUS g.57934577T>A g.57908143T>A ZXDA(NM_007156.4):c.2278A>T (p.N760Y) - ZXDA_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2279A>G r.(?) p.(Asn760Ser) Unknown - VUS g.57934576T>C g.57908142T>C ZXDA(NM_007156.4):c.2279A>G (p.N760S) - ZXDA_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2384G>A r.(?) p.(Ser795Asn) Unknown - likely benign g.57934471C>T g.57908037C>T ZXDA(NM_007156.4):c.2384G>A (p.S795N) - ZXDA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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