Full data view for gene SNRPN

Information The variants shown are described using the NM_022807.2 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

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.-391+573G>A r.(=) p.(=) H-AS2 Maternal (confirmed) - likely benign g.25165844G>A g.24920697G>A - - SNRPN_000022 haplotype not associated with preferential maternal transmission (P=0.23) PubMed: Zogel 2006, Journal: Zogel 2006 - rs2736711 Germline - 0.35 maternal transmission - - - DNA PCR - - AS - PubMed: Zogel 2006, Journal: Zogel 2006 analysis transmission haplotypes in AS-ID patients - - - - - - - - 1 Johan den Dunnen
-/. - c.-391+573G>A r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25165844G>A g.24920697G>A - - SNRPN_000022 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs2736711 Germline - - - - - DNA SEQ - - AS Fam4 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+573G>A r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25165844G>A g.24920697G>A - - SNRPN_000022 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs2736711 Germline - - - - - DNA SEQ - - AS Fam5 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+573G>A r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25165844G>A g.24920697G>A - - SNRPN_000022 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs2736711 Germline - - - - - DNA SEQ - - AS Fam6 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+573G>A r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25165844G>A g.24920697G>A - - SNRPN_000022 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs2736711 Germline - - - - - DNA SEQ - - AS Fam9 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+573G>A r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25165844G>A g.24920697G>A - - SNRPN_000022 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs2736711 Germline - - - - - DNA SEQ - - AS Fam24 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+573G>A r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25165844G>A g.24920697G>A - - SNRPN_000022 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs2736711 Germline - - - - - DNA SEQ - - AS Fam25 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+573G>A r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25165844G>A g.24920697G>A - - SNRPN_000022 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs2736711 Germline - - - - - DNA SEQ - - AS Fam31 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+573G>A r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25165844G>A g.24920697G>A - - SNRPN_000022 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs2736711 Germline - - - - - DNA SEQ - - AS Fam36 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+573G>A r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25165844G>A g.24920697G>A - - SNRPN_000022 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs2736711 Germline - - - - - DNA SEQ - - AS Fam39 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+573G>A r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25165844G>A g.24920697G>A - - SNRPN_000022 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs2736711 Germline - - - - - DNA SEQ - - AS Fam45 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+573G>A r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25165844G>A g.24920697G>A - - SNRPN_000022 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs2736711 Germline - - - - - DNA SEQ - - AS Fam46 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+573G>A r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25165844G>A g.24920697G>A - - SNRPN_000022 - Journal: Beygo 2020 - rs2736711 Germline - - - - - DNA SEQ - - AS Fam49 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+573G>A r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25165844G>A g.24920697G>A - - SNRPN_000022 - Journal: Beygo 2020 - rs2736711 Germline - - - - - DNA SEQ - - AS Fam53 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+573G>A r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25165844G>A g.24920697G>A - - SNRPN_000022 - Journal: Beygo 2020 - rs2736711 Germline - - - - - DNA SEQ - - AS Fam68 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+573G>A r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25165844G>A g.24920697G>A - - SNRPN_000022 - Journal: Beygo 2020 - rs2736711 Germline - - - - - DNA SEQ - - AS Fam69 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+573G>A r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25165844G>A g.24920697G>A - - SNRPN_000022 - Journal: Beygo 2020 - rs2736711 Germline - - - - - DNA SEQ - - AS Fam70 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+573G>A r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25165844G>A g.24920697G>A - - SNRPN_000022 - Journal: Beygo 2020 - rs2736711 Germline - - - - - DNA SEQ - - AS Fam73 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+573G>A r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25165844G>A g.24920697G>A - - SNRPN_000022 - Journal: Beygo 2020 - rs2736711 Germline - - - - - DNA SEQ - - AS Fam74 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+573G>A r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25165844G>A g.24920697G>A - - SNRPN_000022 - Journal: Beygo 2020 - rs2736711 Germline - - - - - DNA SEQ - - AS Fam80 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+573G>A r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25165844G>A g.24920697G>A - - SNRPN_000022 - Journal: Beygo 2020 - rs2736711 Germline - - - - - DNA SEQ - - AS Fam81 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+573G>A r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25165844G>A g.24920697G>A - - SNRPN_000022 - Journal: Beygo 2020 - rs2736711 Germline - - - - - DNA SEQ - - AS Fam84 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+573G>A r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25165844G>A g.24920697G>A - - SNRPN_000022 - Journal: Beygo 2020 - rs2736711 Germline - - - - - DNA SEQ - - AS Fam94 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+573G>A r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25165844G>A g.24920697G>A - - SNRPN_000022 - Journal: Beygo 2020 - rs2736711 Germline - - - - - DNA SEQ - - AS Fam98 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+573G>A r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25165844G>A g.24920697G>A - - SNRPN_000022 - Journal: Beygo 2020 - rs2736711 Germline - - - - - DNA SEQ - - AS Fam113 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+573G>A r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25165844G>A g.24920697G>A - - SNRPN_000022 - Journal: Beygo 2020 - rs2736711 Germline - - - - - DNA SEQ - - AS Fam115 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
Legend   How to query  


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