Full data view for gene PUS1

Information The variants shown are described using the NM_025215.5 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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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.-182C>T r.(=) p.(=) Parent #1 - benign g.132414086C>T g.131929541C>T - - PUS1_000002 c.-376C>T (Isoform 2)= c.-182C>T (Isoform 1); frequency 5-50% - - rs61942438 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/. - c.2T>G r.(?) p.0? Parent #1 - pathogenic (recessive) g.132414269T>G g.131929724T>G - - PUS1_000004 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA191 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
?/. - c.74G>A r.(?) p.(Cys25Tyr) Unknown - VUS g.132414341G>A - PUS1(NM_025215.6):c.74G>A (p.C25Y) - PUS1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.107_122dup r.(?) p.(Cys42Alafs*77) Both (homozygous) ACMG pathogenic g.132414475dup - - - PUS1_000010 ACMG grading: PP4, PVS1, PP1, PM2; PM3_supporting Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
?/. - c.287G>A r.(?) p.(Gly96Asp) Unknown - VUS g.132414664G>A - PUS1(NM_025215.6):c.287G>A (p.(Gly96Asp)) - PUS1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.364C>A r.(=) p.(=) Parent #1 - likely benign g.132416780C>A g.131932235C>A - - PUS1_000012 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs142954643 Germline - 4/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
-?/. - c.397G>A r.(?) p.(Asp133Asn) Unknown - likely benign g.132416813G>A g.131932268G>A PUS1(NM_001002019.2):c.313G>A (p.(Asp105Asn)) - PUS1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.426C>A r.(?) p.(Cys142*) Both (homozygous) - pathogenic (recessive) g.132416842C>A g.131932297C>A - - PUS1_000013 - PubMed: Taylor 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat23 PubMed: Taylor 2014 - F yes Turkey - - - - - 1 Johan den Dunnen
-?/. - c.545-7C>T r.(=) p.(=) Unknown - likely benign g.132425830C>T - PUS1(NM_025215.6):c.545-7C>T - PUS1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.884G>A r.(?) p.(Arg295Gln) Unknown - pathogenic g.132426176G>A - PUS1(NM_025215.6):c.884G>A (p.(Arg295Gln)) - PUS1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.984G>A r.(?) p.(Ala328=) Unknown - likely benign g.132426276G>A - PUS1(NM_025215.5):c.984G>A (p.A328=) - PUS1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.999G>C r.(?) p.(Leu333=) Unknown - benign g.132426291G>C - PUS1(NM_025215.6):c.999G>C (p.(Leu333=)) - PUS1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.999G>C r.(?) p.(Leu333=) Unknown - likely benign g.132426291G>C - PUS1(NM_025215.6):c.999G>C (p.(Leu333=)) - PUS1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1008G>A r.(?) p.(Glu336=) Unknown - likely benign g.132426300G>A - PUS1(NM_025215.6):c.1008G>A (p.E336=) - PUS1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1122C>G r.(?) p.(Tyr374Ter) Unknown - pathogenic g.132426414C>G - PUS1(NM_025215.6):c.1122C>G (p.Y374*) - PUS1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1140C>T r.(?) p.(Thr380=) Unknown - benign g.132426432C>T g.131941887C>T PUS1(NM_025215.5):c.1140C>T (p.T380=), PUS1(NM_025215.6):c.1140C>T (p.(Thr380=)) - PUS1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1140C>T r.(?) p.(Thr380=) Unknown - likely benign g.132426432C>T - PUS1(NM_025215.5):c.1140C>T (p.T380=), PUS1(NM_025215.6):c.1140C>T (p.(Thr380=)) - PUS1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1156del r.(?) p.(Ser386Profs*6) Parent #2 - pathogenic (recessive) g.132426448del g.131941903del - - PUS1_000005 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA191 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
-/. - c.1197C>T r.(?) p.(Phe399=) Unknown - benign g.132426489C>T - PUS1(NM_001002019.2):c.1113C>T (p.(Phe371=)) - PUS1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1197C>T r.(?) p.(Phe399=) Unknown - benign g.132426489C>T - PUS1(NM_001002019.2):c.1113C>T (p.(Phe371=)) - PUS1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1214C>T r.(?) p.(Thr405Met) Unknown - likely benign g.132426506C>T g.131941961C>T PUS1(NM_025215.5):c.1214C>T (p.T405M) - PUS1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1260del r.(?) p.(Ser420Argfs*?) Unknown - likely pathogenic g.132428107del - PUS1(NM_025215.6):c.1260del (p.(Ser420Argfs*126)) - PUS1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*344T>C r.(=) p.(=) Parent #1 - benign g.132428475T>C g.131943930T>C - - PUS1_000001 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
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