Full data view for gene PNPO

Information The variants shown are described using the NM_018129.3 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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.2T>C r.(?) p.(Met1?) Parent #1 - pathogenic g.46019043T>C g.47941677T>C - - PNPO_000017 5 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs796052870 Germline - 5/2774 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
+/. - c.2T>C r.(?) p.(Met1?) Both (homozygous) - pathogenic g.46019043T>C g.47941677T>C - - PNPO_000017 5 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs796052870 Germline - 5/2774 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
./. - c.12del r.(?) p.(Trp4Cysfs*50) Unknown - VUS g.46019053del g.47941687del - - PNPO_000001 frameshift_deletion PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_196:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-/. - c.165C>T r.(?) p.(Ser55=) Unknown - benign g.46020698C>T g.47943332C>T PNPO(NM_018129.4):c.165C>T (p.S55=) - PNPO_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.263+25T>G r.(=) p.(=) Unknown - benign g.46020821T>G g.47943455T>G PNPO(NM_018129.4):c.263+25T>G - PNPO_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.264-129C>T r.(=) p.(=) Unknown - benign g.46021853C>T g.47944487C>T PNPO(NM_018129.4):c.264-129C>T - PNPO_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.336C>T r.(?) p.(Asn112=) Unknown - VUS g.46022054C>T g.47944688C>T PNPO(NM_018129.4):c.336C>T (p.N112=) - PNPO_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.346C>T r.(?) p.(Arg116Ter) Unknown - pathogenic g.46022064C>T g.47944698C>T - - PNPO_000019 no variant 2nd chromosome PubMed: Ganapathy 2019 - rs148839273 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-339 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
-/. - c.347G>A r.(?) p.(Arg116Gln) Unknown - benign g.46022065G>A g.47944699G>A PNPO(NM_018129.4):c.347G>A (p.R116Q) - PNPO_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.347G>A r.(?) p.(Arg116Gln) Unknown - benign g.46022065G>A g.47944699G>A PNPO(NM_018129.4):c.347G>A (p.R116Q) - PNPO_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.364-139T>C r.(=) p.(=) Unknown - likely benign g.46022786T>C g.47945420T>C PNPO(NM_018129.4):c.364-139T>C - PNPO_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.418-67G>A r.(=) p.(=) Unknown - benign g.46023160G>A g.47945794G>A PNPO(NM_018129.4):c.418-67G>A - PNPO_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.471C>A r.(?) p.(Tyr157Ter) Unknown - pathogenic g.46023280C>A g.47945914C>A PNPO(NM_018129.4):c.471C>A (p.Y157*) - PNPO_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.486C>G r.(?) p.(Pro162=) Unknown - benign g.46023295C>G g.47945929C>G PNPO(NM_018129.4):c.486C>G (p.P162=) - PNPO_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.546+15G>A r.(=) p.(=) Unknown - benign g.46023370G>A g.47946004G>A PNPO(NM_018129.4):c.546+15G>A - PNPO_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.546+15G>A r.(=) p.(=) Unknown - benign g.46023370G>A g.47946004G>A PNPO(NM_018129.4):c.546+15G>A - PNPO_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.552G>A r.(?) p.(Leu184=) Unknown - benign g.46023694G>A g.47946328G>A PNPO(NM_018129.4):c.552G>A (p.L184=) - PNPO_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.674G>A r.(?) p.(Arg225His) Both (homozygous) ACMG pathogenic g.46024036G>A g.47946670G>A - - PNPO_000013 - PubMed: Tumienė 2018 - - Germline - - - - - DNA SEQ-NG - WES ? 29286531-Pat25 PubMed: Tumienė 2018 - - - (Slovenia) - - - - - 1 Johan den Dunnen
+?/. - c.674G>A r.(?) p.Arg225His Unknown ACMG likely pathogenic g.46024036G>A g.47946670G>A - - PNPO_000013 ACMG grading: PM5,PP4,PP5,PM2; no second variant in PNPO detected - - rs550423482 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
+/. - c.674G>A r.(?) p.(Arg225His) Unknown - pathogenic g.46024036G>A - PNPO(NM_018129.4):c.674G>A (p.R225H) - PNPO_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.686G>A r.(?) p.(Arg229Gln) Both (homozygous) - pathogenic (recessive) g.46024048G>A g.47946682G>A - - PNPO_000018 - PubMed: Carvill 2013 - - Germline - - - - - DNA MIP, SEQ, SEQ-NG - 65-gene panel EE T23451 PubMed: Carvill 2013 - M - - - - - - - 1 Johan den Dunnen
+/. - c.686G>A r.(?) p.(Arg229Gln) Both (homozygous) - pathogenic (recessive) g.46024048G>A g.47946682G>A - - PNPO_000018 - PubMed: Retterer 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040) - - United States - - - - - 1 Johan den Dunnen
./. - c.698G>A r.(?) p.(Arg233Gln) Unknown - VUS g.46024060G>A g.47946694G>A - - PNPO_000002 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs144390543 Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_566:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-/. - c.723C>G r.(?) p.(Ser241=) Unknown - benign g.46024085C>G g.47946719C>G PNPO(NM_018129.4):c.723C>G (p.S241=) - PNPO_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*106A>T r.(=) p.(=) Unknown - likely benign g.46024254A>T g.47946888A>T PNPO(NM_018129.4):c.*106A>T - PNPO_000012 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.