Full data view for gene GPKOW

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

17 entries on 1 page. Showing entries 1 - 17.
Legend   How to query  

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.11C>G r.(?) p.(Ser4Cys) Unknown - benign g.48980062G>C - GPKOW(NM_015698.5):c.11C>G (p.S4C) - GPKOW_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.31C>G r.(?) p.(Leu11Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.145T>C r.(?) p.(Leu49=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.236G>T r.(?) p.(Arg79Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.331+5G>A r.spl? p.? Unknown - pathogenic (recessive) g.48978967C>T g.49122617C>T - - GPKOW_000002 donor splice site variant submitted - - Germline yes - - - - DNA expr, PCR, RT-PCR, SEQ, SEQ-NG-I lymphoblastoid cell line / blood - ? PatIV1 078-17-EJHG In review. Mutation of the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction M no Australia - - - Y - 1 Marie Shaw
?/. - c.331+44G>A r.(?) p.(?) Unknown - VUS g.48978928C>T - - - GPKOW_000017 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.366G>A r.(?) p.(=) Parent #1 - VUS g.48978838C>T g.49122488C>T A122A - GPKOW_000011 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.379A>G r.(?) p.(Thr127Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.385G>A r.(?) p.(Ala129Thr) Unknown - VUS g.48978819C>T g.49122469C>T GPKOW(NM_015698.5):c.385G>A (p.(Ala129Thr)) - GPKOW_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.385G>A r.(?) p.(Ala129Thr) Parent #1 - VUS g.48978819C>T g.49122469C>T A129T - GPKOW_000009 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.571G>A r.(?) p.(Val191Met) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.863A>G r.(?) p.(Tyr288Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.863A>G r.(?) p.(Tyr288Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.984C>T r.(?) p.(Asn328=) Unknown - likely benign g.48972607G>A - GPKOW(NM_015698.5):c.984C>T (p.N328=) - GPKOW_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1172C>T r.(?) p.(Thr391Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1210+228_1210+229dup r.(=) p.(=) Maternal (inferred) - VUS g.48971851_48971852dup g.49114912_49114913dup - - GPKOW_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1210+228_1210+229dup r.(=) p.(=) Maternal (inferred) - VUS g.48971851_48971852dup g.49114912_49114913dup - - GPKOW_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
Legend   How to query