Full data view for gene HPSE2

Information The variants shown are described using the NM_021828.4 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/? 1 c.57dup r.(?) p.(Ala20Argfs*45) Both (homozygous) - pathogenic (recessive) g.100995509dup g.99235752dup p.A20RfsX45 - HPSE2_000008 - PubMed: Daly 2010 - - Germline - - - 0 - DNA SEQ - - UFS-1 - PubMed: Aydogdu 2010 Twin brother of IV:2 M - - Turkish - 0 - - 1 -
+/? 1 c.57dup r.(?) p.(Ala20Argfs*45) Both (homozygous) - pathogenic (recessive) g.100995509dup g.99235752dup p.A20RfsX45 - HPSE2_000008 - PubMed: Daly 2010 - - Germline - - - 0 - DNA SEQ - - UFS-1 - PubMed: Aydogdu 2010 Twin brother of IV:1 M - - Turkish - 0 - - 1 -
-?/? 1 c.57dup r.(?) p.(Ala20Argfs*45) Parent #1 - likely benign g.100995509dup g.99235752dup p.A20RfsX45 - HPSE2_000008 - PubMed: Daly 2010 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Aydogdu 2010 Parents of IV:1and IV:2. Consanguineous family ? - - Turkish - 0 - - 2 -
+/? 1 c.241_242del r.(?) p.(Leu81Alafs*9) Parent #2 - pathogenic (recessive) g.100995324_100995325del g.99235567_99235568del c.241_242delCT - HPSE2_000005 From parent with French origin mutation PubMed: Pang 2010 - - Unknown - - - 0 - DNA SEQ - - UFS-1 - - see variant's remarks M - - French - 0 - - 1 -
+/? 1 c.241_242del r.(?) p.(Leu81Alafs*9) Parent #2 - pathogenic (recessive) g.100995324_100995325del g.99235567_99235568del c.241_242delCT - HPSE2_000005 From parent with French origin mutation PubMed: Pang 2010 - - Unknown - - - 0 - DNA SEQ - - UFS-1 - - see variant's remarks M - - French - 0 - - 1 -
+/? 3 c.449-?_610+?del r.(?) p.(Asp150_Thr203del) Both (homozygous) - pathogenic (recessive) g.100903995_100904156del - p.D150_T203del - HPSE2_000006 Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Daly 2010 - - Germline - - - 0 - DNA SEQ - - UFS-1 - PubMed: Garcia-Minaur 2001 - M - - Spanish - 0 - - 1 -
-?/? 3 c.449-?_610+?del r.(?) p.(Asp150_Thr203del) Parent #1 - likely benign g.100903995_100904156del - p.D150_T203del - HPSE2_000006 Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Daly 2010 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Garcia-Minaur 2001 Parents of IV:1. Consanguineous family ? - - Spanish - 0 - - 2 -
+/? 3 c.457C>T r.(?) p.(Arg153*) Both (homozygous) - pathogenic (recessive) g.100904148G>A g.99144391G>A p.R153X - HPSE2_000007 - PubMed: Daly 2010 - - Germline - - - 0 - DNA SEQ - - UFS-1 - PubMed: Aydogdu 2010 - ? - - Turkish - 0 - - 5 -
-?/? 3 c.457C>T r.(?) p.(Arg153*) Parent #1 - likely benign g.100904148G>A g.99144391G>A p.R153X - HPSE2_000007 - PubMed: Daly 2010 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Aydogdu 2010 Parents and healty sibs. Consanguineous family ? - - Turkish - 0 - - 14 -
-/. - c.631T>C r.(?) p.(Tyr211His) Unknown - benign g.100503793A>G g.98744036A>G HPSE2(NM_001166246.1):c.631T>C (p.Y211H), HPSE2(NM_021828.4):c.631T>C (p.Y211H) - HPSE2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.631T>C r.(?) p.(Tyr211His) Unknown - benign g.100503793A>G g.98744036A>G HPSE2(NM_001166246.1):c.631T>C (p.Y211H), HPSE2(NM_021828.4):c.631T>C (p.Y211H) - HPSE2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 8-9 c.1099-4166_1320+840delins23 r.(?) p.(Val367_Arg592delinsAlaGlyThrTyrAspLeu) Both (homozygous) - pathogenic (recessive) g.? - p.V367_P440del - HPSE2_000001 - PubMed: Daly 2010 - - Germline - - - 0 - DNA SEQ - - UFS-1 - - Consanguineous family M - United Kingdom (Great Britain) Pakistani - 0 - - 1 -
+/? 8-9 c.1099-4166_1320+840delins23 r.(?) p.(Val367_Arg592delinsAlaGlyThrTyrAspLeu) Both (homozygous) - pathogenic (recessive) g.? - p.V367_P440del - HPSE2_000001 - PubMed: Daly 2010 - - Germline - - - 0 - DNA SEQ - - UFS-1 - - Sister of IV:4. Consanguineous family F - United Kingdom (Great Britain) Pakistani - 0 - - 1 -
+/? 8-9 c.1099-4166_1320+840delins23 r.(?) p.(Val367_Arg592delinsAlaGlyThrTyrAspLeu) Both (homozygous) - pathogenic (recessive) g.? - p.V367_P440del - HPSE2_000001 - PubMed: Daly 2010 - - Germline - - - 0 - DNA SEQ - - UFS-1 - - Brother of IV:4. Consanguineous family M - United Kingdom (Great Britain) Pakistani - 0 - - 1 -
-?/? 8-9 c.1099-4166_1320+840delins23 r.(?) p.(Val367_Arg592delinsAlaGlyThrTyrAspLeu) Parent #1 - likely benign g.? - p.V367_P440del - HPSE2_000001 - PubMed: Daly 2010 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - Parents and healty sibs of IV:4. Consanguineous family ? - United Kingdom (Great Britain) Pakistani - 0 - - 4 -
+/? 10 c.1414C>T r.(?) p.(Arg472*) Both (homozygous) - pathogenic (recessive) g.100249860G>A g.98490103G>A p.R472X - HPSE2_000002 - PubMed: Daly 2010 - - Germline - - - 0 - DNA SEQ - - UFS-1 - PubMed: Derbent 2009 - F - - Turkish - 0 - - 1 -
-?/? 10 c.1414C>T r.(?) p.(Arg472*) Parent #1 - likely benign g.100249860G>A g.98490103G>A p.R472X - HPSE2_000002 - PubMed: Daly 2010 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Derbent 2009 Parents of IV:1. Consanguineous family ? - - Turkish - 0 - - 2 -
+/? 10 c.1465_1466del r.(?) p.(Asn489Profs*126) Both (homozygous) - pathogenic (recessive) g.100249808_100249809del g.98490051_98490052del c.1465_1466delAA - HPSE2_000003 - PubMed: Pang 2010 - - Unknown - - - 0 - DNA SEQ - - UFS-1 - - - M - United States Irish - 0 - - 1 -
+/? 10 c.1465_1466del r.(?) p.(Asn489Profs*126) Both (homozygous) - pathogenic (recessive) g.100249808_100249809del g.98490051_98490052del c.1465_1466delAA - HPSE2_000003 - PubMed: Pang 2010 - - Unknown - - - 0 - DNA SEQ - - UFS-1 - - - M - United States Irish - 0 - - 1 -
+/? 10 c.1465_1466del r.(?) p.(Asn489Profs*126) Both (homozygous) - pathogenic (recessive) g.100249808_100249809del g.98490051_98490052del p.N489PfsX126 - HPSE2_000003 - PubMed: Daly 2010 - - Germline - - - 0 - DNA SEQ - - UFS-1 - PubMed: Garcia-Minaur 2001 Sister of II:3. Strikingly different presentation F - - Irish - 0 - - 1 -
+/? 10 c.1465_1466del r.(?) p.(Asn489Profs*126) Both (homozygous) - pathogenic (recessive) g.100249808_100249809del g.98490051_98490052del p.N489PfsX126 - HPSE2_000003 - PubMed: Daly 2010 - - Germline - - - 0 - DNA SEQ - - UFS-1 - PubMed: Garcia-Minaur 2001 Sister of II:2. Strikingly different presentation F - - Irish - 0 - - 1 -
+/? 10 c.1465_1466del r.(?) p.(Asn489Profs*126) Parent #1 - pathogenic (recessive) g.100249808_100249809del g.98490051_98490052del c.1465_1466delAA - HPSE2_000003 From parent with USAorigin mutation PubMed: Pang 2010 - - Unknown - - - 0 - DNA SEQ - - UFS-1 - - see variant's remarks M - - French - 0 - - 1 -
+/? 10 c.1465_1466del r.(?) p.(Asn489Profs*126) Parent #1 - pathogenic (recessive) g.100249808_100249809del g.98490051_98490052del c.1465_1466delAA - HPSE2_000003 From parent with USAorigin mutation PubMed: Pang 2010 - - Unknown - - - 0 - DNA SEQ - - UFS-1 - - see variant's remarks M - - French - 0 - - 1 -
-?/? 10 c.1465_1466del r.(?) p.(Asn489Profs*126) Parent #1 - likely benign g.100249808_100249809del g.98490051_98490052del p.N489PfsX126 - HPSE2_000003 - PubMed: Daly 2010 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Garcia-Minaur 2001 Parents of II:1 and II:2 ? - - Irish - 0 - - 2 -
+/? 11 c.1516C>T r.(?) p.(Arg506*) Both (homozygous) - pathogenic (recessive) g.100242490G>A g.98482733G>A - - HPSE2_000004 - PubMed: Pang 2010 - - Unknown - - - 0 - DNA SEQ - - UFS-1 - - - M - - Colombian - 0 - - 1 -
+/? 11 c.1516C>T r.(?) p.(Arg506*) Both (homozygous) - pathogenic (recessive) g.100242490G>A g.98482733G>A - - HPSE2_000004 - PubMed: Pang 2010 - - Unknown - - - 0 - DNA SEQ - - UFS-1 - - - F - - Colombian - 0 - - 1 -
+/? 11 c.1516C>T r.(?) p.(Arg506*) Both (homozygous) - pathogenic (recessive) g.100242490G>A g.98482733G>A - - HPSE2_000004 - PubMed: Pang 2010 - - Unknown - - - 0 - DNA SEQ - - UFS-1 - - - F - - Colombian - 0 - - 1 -
+/? 11 c.1516C>T r.(?) p.(Arg506*) Both (homozygous) - pathogenic (recessive) g.100242490G>A g.98482733G>A - - HPSE2_000004 - PubMed: Pang 2010 - - Unknown - - - 0 - DNA SEQ - - UFS-1 - - Consanguineous family F - - Colombian - 0 - - 1 -
+/? 11 c.1516C>T r.(?) p.(Arg506*) Both (homozygous) - pathogenic (recessive) g.100242490G>A g.98482733G>A - - HPSE2_000004 - PubMed: Pang 2010 - - Unknown - - - 0 - DNA SEQ - - UFS-1 - - Consanguineous family M - - Colombian - 0 - - 1 -
+/? 11 c.1516C>T r.(?) p.(Arg506*) Both (homozygous) - pathogenic (recessive) g.100242490G>A g.98482733G>A - - HPSE2_000004 - PubMed: Pang 2010 - - Unknown - - - 0 - DNA SEQ - - UFS-1 - - - F - - Colombian - 0 - - 1 -
-/. - c.1736A>T r.(?) p.(Tyr579Phe) Unknown - benign g.100219374T>A g.98459617T>A HPSE2(NM_021828.4):c.1736A>T (p.Y579F) - HPSE2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*17C>T r.(=) p.(=) Unknown - benign g.100219314G>A g.98459557G>A HPSE2(NM_001166246.1):c.*219C>T - HPSE2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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