Full data view for gene SNIP1

Information The variants shown are described using the NM_024700.3 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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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.84G>A r.(?) p.(Val28=) Unknown - benign g.38019747C>T g.37554146C>T SNIP1(NM_024700.4):c.84G>A (p.V28=) - SNIP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.158C>G r.(?) p.(Pro53Arg) Unknown - likely benign g.38019673G>C g.37554072G>C SNIP1(NM_024700.3):c.158C>G (p.(Pro53Arg)) - DNALI1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.174C>A r.(?) p.(Ser58Arg) Unknown - likely benign g.38019657G>T - SNIP1(NM_024700.3):c.174C>A (p.S58R) - DNALI1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.264_266del r.(?) p.(Arg88del) Unknown - VUS g.38018312_38018314del g.37552711_37552713del SNIP1(NM_024700.3):c.264_266del (p.(Arg88del)) - DNALI1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.292C>T r.(?) p.(Arg98*) Unknown - VUS g.38018281G>A g.37552680G>A - - SNIP1_000006 stopgain variant PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_509:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
?/. - c.328-4716dup r.(=) p.(=) Unknown - VUS g.38011087dup g.37545486dup - - SNIP1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
./. - c.328-4395G>A r.(=) p.(=) Unknown - VUS g.38010751C>T g.37545150C>T - - SNIP1_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
./. - c.328-4395G>A r.(=) p.(=) Unknown - VUS g.38010751C>T g.37545150C>T - - SNIP1_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-/. - c.328-3T>C r.spl? p.? Unknown - benign g.38006359A>G g.37540758A>G SNIP1(NM_024700.4):c.328-3T>C - SNIP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.331C>T r.(?) p.(Arg111Cys) Unknown - VUS g.38006353G>A g.37540752G>A - - SNIP1_000005 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs202020647 Germline - 1/194 cases RE - - - DNA SEQ-NG - - epilepsy, Rolandic S_713:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - 1 Dheeraj Bobbili
?/. - c.346C>T r.(?) p.(Arg116Trp) Unknown - VUS g.38006338G>A - SNIP1(NM_024700.3):c.346C>T (p.R116W) - SNIP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.521C>T r.(?) p.(Ala174Val) Unknown - likely benign g.38006163G>A g.37540562G>A SNIP1(NM_024700.3):c.521C>T (p.A174V) - SNIP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.584_586del r.(?) p.(Val195del) Unknown - VUS g.38006099_38006101del g.37540498_37540500del - - SNIP1_000004 nonframeshift_deletion PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_288:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
+?/. - c.1097A>G r.(?) p.(Glu366Gly) Both (homozygous) - likely pathogenic g.38003443T>C g.37537842T>C SNIP1 c.1097A>G, p.Glu366Gly - SNIP1_000013 homozygous PubMed: Puffenberger 2012 - - Germline yes population-specific allele frequency: 1.48% (6/406) - - - DNA arraySNP, SEQ-NG, SEQ blood targeted gene analysis or a next-generation sequencing-based gene panel PMRED 12 PubMed: Puffenberger 2012 brother of 13; no patient number in publication, consecutive numbers given M - - Old Order Amish and Mennonite - - - - 1 LOVD
+?/. - c.1097A>G r.(?) p.(Glu366Gly) Both (homozygous) - likely pathogenic g.38003443T>C g.37537842T>C SNIP1 c.1097A>G, p.Glu366Gly - SNIP1_000013 homozygous PubMed: Puffenberger 2012 - - Germline yes population-specific allele frequency: 1.48% (6/406) - - - DNA arraySNP, SEQ-NG, SEQ blood targeted gene analysis or a next-generation sequencing-based gene panel PMRED 13 PubMed: Puffenberger 2012 brother of 12; no patient number in publication, consecutive numbers given M - - Old Order Amish and Mennonite - - - - 1 LOVD
+?/. - c.1097A>G r.(?) p.(Glu366Gly) Both (homozygous) - likely pathogenic g.38003443T>C g.37537842T>C SNIP1 c.1097A>G, p.Glu366Gly - SNIP1_000013 homozygous PubMed: Puffenberger 2012 - - Germline yes population-specific allele frequency: 1.48% (6/406) - - - DNA arraySNP, SEQ-NG, SEQ blood targeted gene analysis or a next-generation sequencing-based gene panel PMRED 14 PubMed: Puffenberger 2012 no patient number in publication, consecutive numbers given ? - - Old Order Amish and Mennonite - - - - 1 LOVD
./. - c.1156G>A r.(?) p.(Asp386Asn) Unknown - VUS g.38003384C>T g.37537783C>T - - SNIP1_000003 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs146974230 Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_200:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
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