Unique variants in gene HPSE2

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

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
+/?, -?/? 3 1 c.57dup pathogenic (recessive), likely benign r.(?) p.(Ala20Argfs*45) g.100995503dup - p.A20RfsX45 - HPSE2_000008 - PubMed: Daly 2010 - - Germline - - - - - -
+/? 2 1 c.241_242del pathogenic (recessive) r.(?) p.(Leu81Alafs*9) g.100995318_100995319del - c.241_242delCT - HPSE2_000005 From parent with French origin mutation PubMed: Pang 2010 - - Unknown - - - - - -
+/?, -?/? 2 3 c.449-?_610+?del pathogenic (recessive), likely benign r.(?) p.(Asp150_Thr203del) g.100903995_100904156del - p.D150_T203del - HPSE2_000006 - PubMed: Daly 2010 - - Germline - - - - - -
+/?, -?/? 2 3 c.457C>T pathogenic (recessive), likely benign r.(?) p.(Arg153*) g.100904148G>A - p.R153X - HPSE2_000007 - PubMed: Daly 2010 - - Germline - - - - - -
-/. 2 - c.631T>C benign r.(?) p.(Tyr211His) g.100503793A>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 - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam
+/?, -?/? 4 8-9 c.1099-4166_1320+840delins23 pathogenic (recessive), likely benign r.(?) p.(Val367_Arg592delinsAlaGlyThrTyrAspLeu) g.? - p.V367_P440del - HPSE2_000001 - PubMed: Daly 2010 - - Germline - - - - - -
+/?, -?/? 2 10 c.1414C>T pathogenic (recessive), likely benign r.(?) p.(Arg472*) g.100249860G>A - p.R472X - HPSE2_000002 - PubMed: Daly 2010 - - Germline - - - - - -
+/?, -?/? 7 10 c.1465_1466del pathogenic (recessive), likely benign r.(?) p.(Asn489Profs*126) g.100249808_100249809del - c.1465_1466delAA, p.N489PfsX126 - HPSE2_000003 From parent with USAorigin mutation PubMed: Pang 2010, PubMed: Daly 2010 - - Unknown, Germline - - - - - -
+/? 6 11 c.1516C>T pathogenic (recessive) r.(?) p.(Arg506*) g.100242490G>A - - - HPSE2_000004 - PubMed: Pang 2010 - - Unknown - - - - - -
-/. 1 - c.1736A>T benign r.(?) p.(Tyr579Phe) g.100219374T>A - HPSE2(NM_021828.4):c.1736A>T (p.Y579F) - HPSE2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*17C>T benign r.(=) p.(=) g.100219314G>A - HPSE2(NM_001166246.1):c.*219C>T - HPSE2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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