Full data view for gene PRIMPOL

Information The variants shown are described using the NM_152683.2 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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.69G>A r.(?) p.(Pro23=) Unknown - likely benign g.185578363G>A - PRIMPOL(NM_152683.3):c.69G>A (p.P23=) - MLF1IP_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.265T>G r.(?) p.(Tyr89Asp) Both (homozygous) - pathogenic g.185580578T>G g.184659424T>G - - PRIMPOL_000001 - PubMed: Zhao 2013, OMIM:var0001 - rs200857997 Germline yes - - - - DNA SEQ, SEQ-NG-I - - MYP22 - PubMed: Zhao 2013 index case 4-generation family, 11 affecteds (6F, 5M), 3 deceased F no China Chinese, Han - - - - 11 Johan den Dunnen
+/. 4 c.265T>G r.(?) p.(Tyr89Asp) Parent #1 - pathogenic g.185580578T>G g.184659424T>G - - PRIMPOL_000001 - PubMed: Zhao 2013, OMIM:var0001 - rs200857997 Germline yes - - - - DNA SEQ - - MYP22 - PubMed: Zhao 2013 4-generation family, 7 affecteds (4F, 3M), relatives index case - no China Chinese, Han - - - - 7 Johan den Dunnen
+/. 4 c.265T>G r.(?) p.(Tyr89Asp) Unknown - pathogenic g.185580578T>G g.184659424T>G - - PRIMPOL_000001 not in 340 control chromosomes PubMed: Zhao 2013, OMIM:var0001 - - Unknown ? 2/170 cases - - - DNA SEQ - - MYP22 - PubMed: Zhao 2013 patients WZHM504 and WZHM672 ? ? China Chinese, Han - - - - 170 Johan den Dunnen
+/. 4 c.265T>G r.(?) p.(Tyr89Asp) Unknown - pathogenic g.185580578T>G g.184659424T>G - - PRIMPOL_000001 not in 200 control chromosomes PubMed: Zhao 2013, OMIM:var0001 - - Unknown ? 1/100 cases - - - DNA SEQ - - MYP22 - PubMed: Zhao 2013 patients WZHM1154 and WZHM1245 F ? China Chinese, Han - - - - 100 Johan den Dunnen
+?/. - c.391dup r.(?) p.(Val131Glyfs*6) Unknown - likely pathogenic g.185583040dup g.184661886dup c.389_390insG, p.Gly131Glyfs27 - PRIMPOL_000001 heterozygous, error in annotation:c.389_390insG (c.391dup) causes p.(Val131Glyfs*6) instead of heterozygous, p.(Gly131Glyfs27) PubMed: Gao 2019 - - Germline ? - - - - DNA SEQ-NG - - retinal disease RD18184070_B PubMed: Gao 2019 - ? - China - - - - - 1 LOVD
-?/. - c.435A>T r.(?) p.(Leu145Phe) Unknown - likely benign g.185587097A>T - PRIMPOL(NM_001345891.2):c.435A>T (p.L145F), PRIMPOL(NM_001345899.1):c.435A>T (p.L145F) - MLF1IP_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.435A>T r.(?) p.(Leu145Phe) Unknown - likely benign g.185587097A>T - PRIMPOL(NM_001345891.2):c.435A>T (p.L145F), PRIMPOL(NM_001345899.1):c.435A>T (p.L145F) - MLF1IP_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.576T>G r.(?) p.(Ile192Met) Unknown - VUS g.185593346T>G - PRIMPOL(NM_001345891.1):c.576T>G (p.I192M) - MLF1IP_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.668C>G r.(?) p.(Pro223Arg) Unknown - VUS g.185593438C>G - - - MLF1IP_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.844G>A r.(?) p.(Gly282Arg) Unknown - VUS g.185593614G>A - PRIMPOL(NM_001345891.1):c.844G>A (p.G282R), PRIMPOL(NM_152683.4):c.844G>A (p.(Gly282Arg)) - MLF1IP_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.844G>A r.(?) p.(Gly282Arg) Unknown - VUS g.185593614G>A - PRIMPOL(NM_001345891.1):c.844G>A (p.G282R), PRIMPOL(NM_152683.4):c.844G>A (p.(Gly282Arg)) - MLF1IP_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.853A>G r.(?) p.(Thr285Ala) Unknown - VUS g.185599394A>G - PRIMPOL(NM_001345891.1):c.853A>G (p.T285A) - MLF1IP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.950C>G r.(?) p.(Ser317Ter) Unknown - pathogenic g.185599491C>G g.184678337C>G PRIMPOL(NM_152683.3):c.950C>G (p.S317*) - MLF1IP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1007+4T>C r.spl? p.? Unknown - likely benign g.185599552T>C - PRIMPOL(NM_001345891.2):c.1007+4T>C - MLF1IP_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1380T>C r.(?) p.(Cys460=) Unknown - likely benign g.185612821T>C - PRIMPOL(NM_001345891.2):c.1419T>C (p.C473=), PRIMPOL(NM_152683.3):c.1380T>C (p.C460=) - MLF1IP_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1380T>C r.(?) p.(Cys460=) Unknown - likely benign g.185612821T>C - PRIMPOL(NM_001345891.2):c.1419T>C (p.C473=), PRIMPOL(NM_152683.3):c.1380T>C (p.C460=) - MLF1IP_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1425+15del r.(=) p.(=) Unknown - likely benign g.185612881del - PRIMPOL(NM_001345891.2):c.1464+15delT - MLF1IP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1431_1433del r.(?) p.(Glu478del) Unknown - VUS g.185615681_185615683del g.184694527_184694529del PRIMPOL(NM_152683.3):c.1431_1433delAGA (p.E478del) - MLF1IP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1606G>A r.(?) p.(Glu536Lys) Unknown - likely benign g.185615856G>A - PRIMPOL(NM_152683.2):c.1606G>A (p.(Glu536Lys)) - MLF1IP_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2948C>T r.(=) p.(=) Unknown - likely benign g.185618881C>T - CENPU(NM_024629.4):c.1063G>A (p.(Ala355Thr)) - MLF1IP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7351_*7354del r.(=) p.(=) Unknown - VUS g.185623284_185623287del - CENPU(NM_024629.4):c.884_887del (p.(Glu295AlafsTer4)) - MLF1IP_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.