Unique variants in the GPKOW gene

Information The variants shown are described using the NM_015698.4 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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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.11C>G r.(?) p.(Ser4Cys) - benign g.48980062G>C - GPKOW(NM_015698.5):c.11C>G (p.S4C) - GPKOW_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.31C>G r.(?) p.(Leu11Val) - likely benign g.48980042G>C g.49123692G>C GPKOW(NM_015698.5):c.31C>G (p.(Leu11Val)) - GPKOW_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.145T>C r.(?) p.(Leu49=) - likely benign g.48979928A>G g.49123578A>G GPKOW(NM_015698.5):c.145T>C (p.L49=) - GPKOW_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.236G>T r.(?) p.(Arg79Leu) - likely benign g.48979067C>A g.49122717C>A GPKOW(NM_015698.5):c.236G>T (p.(Arg79Leu)) - GPKOW_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.331+5G>A r.spl? p.? - pathogenic (recessive) g.48978967C>T g.49122617C>T - - GPKOW_000002 donor splice site variant submitted - - Germline yes - - - - Marie Shaw
?/. 1 - c.331+44G>A r.(?) p.(?) - VUS g.48978928C>T - - - GPKOW_000017 - - - - CLASSIFICATION record - - - - - MobiDetails
?/. 1 3 c.366G>A r.(?) p.(=) - VUS g.48978838C>T g.49122488C>T A122A - GPKOW_000011 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.379A>G r.(?) p.(Thr127Ala) - likely benign g.48978825T>C g.49122475T>C GPKOW(NM_015698.5):c.379A>G (p.T127A) - GPKOW_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 3 c.385G>A r.(?) p.(Ala129Thr) - VUS g.48978819C>T g.49122469C>T A129T, GPKOW(NM_015698.5):c.385G>A (p.(Ala129Thr)) - GPKOW_000009 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
?/. 1 - c.571G>A r.(?) p.(Val191Met) - VUS g.48974160C>T g.49117806C>T GPKOW(NM_015698.5):c.571G>A (p.(Val191Met)) - GPKOW_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.863A>G r.(?) p.(Tyr288Cys) - likely benign g.48973434T>C g.49117080T>C GPKOW(NM_015698.5):c.863A>G (p.Y288C, p.(Tyr288Cys)) - GPKOW_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.984C>T r.(?) p.(Asn328=) - likely benign g.48972607G>A - GPKOW(NM_015698.5):c.984C>T (p.N328=) - GPKOW_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1172C>T r.(?) p.(Thr391Ile) - likely benign g.48972118G>A g.49115764G>A GPKOW(NM_015698.5):c.1172C>T (p.(Thr391Ile)) - GPKOW_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.1210+228_1210+229dup r.(=) p.(=) - VUS g.48971851_48971852dup g.49114912_49114913dup - - GPKOW_000001 - - - - Germline - - - - - Yu Sun
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