Full data view for gene SNRPN

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

20 entries on 1 page. Showing entries 1 - 20.
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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+665_-391+668del r.(=) p.(=) H-AS3 Maternal (confirmed) - association g.25165936_25165939del g.24920789_24920792del - - SNRPN_000023 haplotype associated with preferential maternal transmission (P=0.06) PubMed: Zogel 2006, Journal: Zogel 2006 - rs36061418 Germline - 0.8 maternal transmission - - - DNA PCR - - AS - PubMed: Zogel 2006, Journal: Zogel 2006 analysis transmission haplotypes in AS-ID patients - - - - - - - - 1 Johan den Dunnen
-/. - c.-391+665_-391+668del r.(=) p.(=) H-AS3 Maternal (confirmed) - association g.25165936_25165939del g.24920789_24920792del - - SNRPN_000023 associated with maternal overtransmisson in Angelman syndrome PubMed: Zogel 2006, Journal: Zogel 2006 - rs36061418 Germline - - - - - DNA SEQ - - AS Fam16 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+665_-391+668del r.(=) p.(=) H-AS3 Maternal (confirmed) - association g.25165936_25165939del g.24920789_24920792del - - SNRPN_000023 associated with maternal overtransmisson in Angelman syndrome PubMed: Zogel 2006, Journal: Zogel 2006 - rs36061418 Germline - - - - - DNA SEQ - - AS Fam17 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+665_-391+668del r.(=) p.(=) H-AS3 Maternal (confirmed) - association g.25165936_25165939del g.24920789_24920792del - - SNRPN_000023 associated with maternal overtransmisson in Angelman syndrome PubMed: Zogel 2006, Journal: Zogel 2006 - rs36061418 Germline - - - - - DNA SEQ - - AS Fam19 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+665_-391+668del r.(=) p.(=) H-AS3 Maternal (confirmed) - association g.25165936_25165939del g.24920789_24920792del - - SNRPN_000023 associated with maternal overtransmisson in Angelman syndrome PubMed: Zogel 2006, Journal: Zogel 2006 - rs36061418 Germline - - - - - DNA SEQ - - AS Fam23 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+665_-391+668del r.(=) p.(=) H-AS3 Maternal (confirmed) - association g.25165936_25165939del g.24920789_24920792del - - SNRPN_000023 associated with maternal overtransmisson in Angelman syndrome PubMed: Zogel 2006, Journal: Zogel 2006 - rs36061418 Germline - - - - - DNA SEQ - - AS Fam35 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+665_-391+668del r.(=) p.(=) H-AS3 Maternal (confirmed) - association g.25165936_25165939del g.24920789_24920792del - - SNRPN_000023 associated with maternal overtransmisson in Angelman syndrome PubMed: Zogel 2006, Journal: Zogel 2006 - rs36061418 Germline - - - - - DNA SEQ - - AS Fam38 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+665_-391+668del r.(=) p.(=) H-AS3 Maternal (confirmed) - association g.25165936_25165939del g.24920789_24920792del - - SNRPN_000023 associated with maternal overtransmisson in Angelman syndrome PubMed: Zogel 2006, Journal: Zogel 2006 - rs36061418 Germline - - - - - DNA SEQ - - AS Fam43 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+665_-391+668del r.(=) p.(=) H-AS3 Maternal (confirmed) - association g.25165936_25165939del g.24920789_24920792del - - SNRPN_000023 associated with maternal overtransmisson in Angelman syndrome PubMed: Zogel 2006, Journal: Zogel 2006 - rs36061418 Germline - - - - - DNA SEQ - - AS Fam44 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+665_-391+668del r.(=) p.(=) H-AS3 Maternal (confirmed) - association g.25165936_25165939del g.24920789_24920792del - - SNRPN_000023 associated with maternal overtransmisson in Angelman syndrome PubMed: Zogel 2006, Journal: Zogel 2006 - rs36061418 Germline - - - - - DNA SEQ - - AS Fam47 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+665_-391+668del r.(=) p.(=) H-AS3 Maternal (confirmed) - association g.25165936_25165939del g.24920789_24920792del - - SNRPN_000023 associated with maternal overtransmisson in Angelman syndrome Journal: Beygo 2020 - rs36061418 Germline - - - - - DNA SEQ - - AS Fam52 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+665_-391+668del r.(=) p.(=) H-AS3 Maternal (confirmed) - association g.25165936_25165939del g.24920789_24920792del - - SNRPN_000023 associated with maternal overtransmisson in Angelman syndrome Journal: Beygo 2020 - rs36061418 Germline - - - - - DNA SEQ - - AS Fam57 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+665_-391+668del r.(=) p.(=) H-AS3 Maternal (confirmed) - association g.25165936_25165939del g.24920789_24920792del - - SNRPN_000023 associated with maternal overtransmisson in Angelman syndrome Journal: Beygo 2020 - rs36061418 Germline - - - - - DNA SEQ - - AS Fam63 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+665_-391+668del r.(=) p.(=) H-AS3 Maternal (confirmed) - association g.25165936_25165939del g.24920789_24920792del - - SNRPN_000023 associated with maternal overtransmisson in Angelman syndrome Journal: Beygo 2020 - rs36061418 Germline - - - - - DNA SEQ - - AS Fam71 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+665_-391+668del r.(=) p.(=) H-AS3 Maternal (confirmed) - association g.25165936_25165939del g.24920789_24920792del - - SNRPN_000023 associated with maternal overtransmisson in Angelman syndrome Journal: Beygo 2020 - rs36061418 Germline - - - - - DNA SEQ - - AS Fam78 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+665_-391+668del r.(=) p.(=) H-AS3 Maternal (confirmed) - association g.25165936_25165939del g.24920789_24920792del - - SNRPN_000023 associated with maternal overtransmisson in Angelman syndrome Journal: Beygo 2020 - rs36061418 Germline - - - - - DNA SEQ - - AS Fam91 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+665_-391+668del r.(=) p.(=) H-AS3 Maternal (confirmed) - association g.25165936_25165939del g.24920789_24920792del - - SNRPN_000023 associated with maternal overtransmisson in Angelman syndrome Journal: Beygo 2020 - rs36061418 Germline - - - - - DNA SEQ - - AS Fam106 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+665_-391+668del r.(=) p.(=) H-AS3 Maternal (confirmed) - association g.25165936_25165939del g.24920789_24920792del - - SNRPN_000023 associated with maternal overtransmisson in Angelman syndrome Journal: Beygo 2020 - rs36061418 Germline - - - - - DNA SEQ - - AS Fam107 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+665_-391+668del r.(=) p.(=) H-AS3 Maternal (confirmed) - association g.25165936_25165939del g.24920789_24920792del - - SNRPN_000023 associated with maternal overtransmisson in Angelman syndrome Journal: Beygo 2020 - rs36061418 Germline - - - - - DNA SEQ - - AS Fam109 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+665_-391+668del r.(=) p.(=) H-AS3 Maternal (confirmed) - association g.25165936_25165939del g.24920789_24920792del - - SNRPN_000023 associated with maternal overtransmisson in Angelman syndrome Journal: Beygo 2020 - rs36061418 Germline - - - - - DNA SEQ - - AS Fam114 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
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