Full data view for gene XPNPEP3

Information The variants shown are described using the NM_022098.3 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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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     

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Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.64+3433G>T r.(=) p.(=) Unknown - VUS g.41256682G>T - XPNPEP3(NM_001204827.1):c.65G>T (p.G22V) - DNAJB7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.64+3463A>G r.(=) p.(=) Unknown - benign g.41256712A>G g.40860708A>G XPNPEP3(NM_001204827.1):c.95A>G (p.Q32R) - DNAJB7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.64+3492A>G r.(=) p.(=) Unknown - likely benign g.41256741A>G - XPNPEP3(NM_001204827.2):c.124A>G (p.(Met42Val)) - DNAJB7_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.64+4144C>A r.(=) p.(=) Unknown - likely benign g.41257393C>A g.40861389C>A DNAJB7(NM_145174.1):c.606G>T (p.(Lys202Asn)) - DNAJB7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.463C>T r.(?) p.(Arg155Trp) Unknown - pathogenic g.41278055C>T - c.463C/T - XPNPEP3_000006 - PubMed: Otto 2011 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG-S Blood - retinal disease - PubMed: Otto 2011 - - no Austria - - - - - 1 LOVD
-?/. - c.590-9C>T r.(=) p.(=) Unknown - likely benign g.41282308C>T - XPNPEP3(NM_022098.4):c.590-9C>T - DNAJB7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.590-8A>G r.(=) p.(=) Unknown - likely benign g.41282309A>G g.40886305A>G XPNPEP3(NM_022098.3):c.590-8A>G, XPNPEP3(NM_022098.4):c.590-8A>G - DNAJB7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.590-8A>G r.(=) p.(=) Unknown - likely benign g.41282309A>G - XPNPEP3(NM_022098.3):c.590-8A>G, XPNPEP3(NM_022098.4):c.590-8A>G - DNAJB7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.761G>T r.(?) p.(Arg254Leu) Unknown - likely benign g.41282488G>T - XPNPEP3(NM_022098.4):c.761G>T (p.R254L) - DNAJB7_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.792+13T>C r.(=) p.(=) Unknown - likely benign g.41282532T>C - XPNPEP3(NM_022098.4):c.792+13T>C - DNAJB7_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.793-428C>T r.(=) p.(=) Unknown - VUS g.41303163C>T g.40907159C>T XPNPEP3 Arg276Cys - XPNPEP3_000004 - PubMed: Olivé 2015 - rs118098040 Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - candidate gene screening and WES CMH 25801283-FamPatIII4 PubMed: Olivé 2015 4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives M - Spain - - - - - 3 Johan den Dunnen
-?/. - c.817A>G r.(?) p.(Ser273Gly) Unknown - likely benign g.41303615A>G - XPNPEP3(NM_022098.4):c.817A>G (p.S273G) - DNAJB7_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.856-2A>G r.spl? p.? Unknown - VUS g.41305124A>G - XPNPEP3(NM_022098.4):c.856-2A>G - DNAJB7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.969+6T>C r.(=) p.(=) Unknown - likely benign g.41305245T>C - XPNPEP3(NM_022098.4):c.969+6T>C - DNAJB7_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.970-9T>C r.(=) p.(=) Unknown - benign g.41310234T>C - XPNPEP3(NM_022098.4):c.970-9T>C - DNAJB7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1055+15G>A r.(=) p.(=) Unknown - benign g.41310343G>A g.40914339G>A XPNPEP3(NM_022098.4):c.1055+15G>A - XPNPEP3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1244G>A r.(?) p.(Arg415Gln) Unknown - VUS g.41320373G>A - XPNPEP3(NM_022098.4):c.1244G>A (p.(Arg415Gln)) - DNAJB7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1268del r.(?) p.(Gly423Alafs*25) Unknown - VUS g.41320397del - XPNPEP3(NM_022098.4):c.1268delG (p.G423Afs*25) - DNAJB7_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1357G>A r.(?) p.(Gly453Ser) Unknown - likely pathogenic g.41320486G>A - - - DNAJB7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.1357G>A r.1357_1358ins1357+1_1357+31 p.Gly453_Iso454insfsTer17 Unknown - likely pathogenic g.41320486G>A g.40924482G>A - - DNAJB7_000008 effect on RNA inclusion of intron sequences - - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG fibroblasts mRNA splicing analysis on tissue ? - - - - - Netherlands - - - - - 1 Tjakko van Ham
+/. - c.1357G>T r.(?) p.(Gly453Cys) Parent #1 - pathogenic g.41320486G>T g.40924482G>T - - XPNPEP3_000005 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs267607179 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.1477C>G r.(?) p.(Pro493Ala) Unknown - likely benign g.41322392C>G - XPNPEP3(NM_022098.4):c.1477C>G (p.P493A) - DNAJB7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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