Full data view for gene GDPD2

Information The variants shown are described using the NM_017711.3 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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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.-3632G>A r.(?) p.(=) Unknown - likely benign g.69639610G>A g.70419760G>A KIF4A(NM_012310.4):c.3472G>A (p.V1158I) - KIF4A_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3279C>T r.(?) p.(=) Unknown - likely benign g.69639963C>T g.70420113C>T KIF4A(NM_012310.4):c.3547C>T (p.P1183S) - KIF4A_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3242A>G r.(?) p.(=) Unknown - likely benign g.69640000A>G g.70420150A>G KIF4A(NM_012310.4):c.3584A>G (p.H1195R) - KIF4A_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-3213G>C r.(?) p.(=) Unknown - VUS g.69640029G>C g.70420179G>C KIF4A(NM_012310.4):c.3613G>C (p.(Ala1205Pro)) - KIF4A_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-3194A>G r.(?) p.(=) Unknown - VUS g.69640048A>G g.70420198A>G KIF4A(NM_012310.4):c.3632A>G (p.K1211R) - KIF4A_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.7G>A r.(?) p.(Glu3Lys) Parent #1 - VUS g.69644841G>A g.70424991G>A E3K - GDPD2_000003 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.218T>G r.(?) p.(Phe73Cys) Unknown - likely benign g.69645621T>G g.70425771T>G GDPD2(NM_001171192.1):c.218T>G (p.F73C) - KIF4A_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.406G>A r.(?) p.(Val136Met) Unknown - VUS g.69646263G>A g.70426413G>A GDPD2(NM_001171192.1):c.406G>A (p.V136M) - GDPD2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 10 c.792T>C r.(?) p.(=) Parent #1 - likely benign g.69647169T>C g.70427319T>C D264D - GDPD2_000004 recurrent, found 15 times PubMed: Tarpey 2009 - - Germline - 15/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 15 Lucy Raymond
?/. - c.1070G>A r.(?) p.(Arg357His) Unknown - VUS g.69649476G>A g.70429626G>A GDPD2(NM_001171192.1):c.1070G>A (p.R357H) - GDPD2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1307+1032G>A r.(=) p.(=) Unknown - VUS g.69650945G>A g.70431095G>A GDPD2(NM_001171191.1):c.1070+1032G>A (p.(=)) - GDPD2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 14 c.1483G>A r.(?) p.(Val495Ile) Parent #1 - VUS g.69652456G>A g.70432606G>A V495I - GDPD2_000005 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
-?/. - c.1483G>A r.(?) p.(Val495Ile) Unknown - likely benign g.69652456G>A g.70432606G>A GDPD2(NM_001171191.1):c.1246G>A (p.(Val416Ile)) - GDPD2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1539A>G r.(?) p.(=) Maternal (inferred) - VUS g.69652762A>G g.70432912A>G - - GDPD2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1539A>G r.(?) p.(=) Maternal (inferred) - VUS g.69652762A>G g.70432912A>G - - GDPD2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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