Unique variants in the GDPD2 gene

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

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

Reported     

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     
-?/. 1 - c.-3632G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-3279C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-3242A>G r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-3213G>C r.(?) p.(=) - 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 - - - - - VKGL-NL_Leiden
?/. 1 - c.-3194A>G r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 2 c.7G>A r.(?) p.(Glu3Lys) - VUS g.69644841G>A g.70424991G>A E3K - GDPD2_000003 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.218T>G r.(?) p.(Phe73Cys) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.406G>A r.(?) p.(Val136Met) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 10 c.792T>C r.(?) p.(=) - likely benign g.69647169T>C g.70427319T>C D264D - GDPD2_000004 recurrent, found 15 times PubMed: Tarpey 2009 - - Germline - 15/208 cases - - - Lucy Raymond
?/. 1 - c.1070G>A r.(?) p.(Arg357His) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1307+1032G>A r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden
-?/., ?/. 2 14 c.1483G>A r.(?) p.(Val495Ile) - likely benign, VUS g.69652456G>A g.70432606G>A GDPD2(NM_001171191.1):c.1246G>A (p.(Val416Ile)), V495I - GDPD2_000005 recurrent, found 2 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 2/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
?/. 2 - c.1539A>G r.(?) p.(=) - VUS g.69652762A>G g.70432912A>G - - GDPD2_000001 - - - - Germline - - - - - Yu Sun
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