Unique variants in the HPSE2 gene

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

15 entries on 1 page. Showing entries 1 - 15.
Legend   How to query  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/?, -?/? 3 1 c.57dup r.(?) p.(Ala20Argfs*45) - likely benign, pathogenic (recessive) g.100995509dup g.99235752dup p.A20RfsX45 - HPSE2_000008 - PubMed: Daly 2010 - - Germline - - - - - LOVD
+/? 2 1 c.241_242del r.(?) p.(Leu81Alafs*9) - pathogenic (recessive) g.100995324_100995325del g.99235567_99235568del c.241_242delCT - HPSE2_000005 From parent with French origin mutation PubMed: Pang 2010 - - Unknown - - - - - LOVD
-?/. 1 - c.290+7C>T r.(=) p.(=) - likely benign g.100995263G>A - HPSE2(NM_021828.4):c.290+7C>T - HPSE2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/?, -?/? 2 3 c.449-?_610+?del r.(?) p.(Asp150_Thr203del) - likely benign, pathogenic (recessive) g.100903995_100904156del - p.D150_T203del - HPSE2_000006 1 more item PubMed: Daly 2010 - - Germline - - - - - LOVD
+/?, -?/? 2 3 c.457C>T r.(?) p.(Arg153*) - likely benign, pathogenic (recessive) g.100904148G>A g.99144391G>A p.R153X - HPSE2_000007 - PubMed: Daly 2010 - - Germline - - - - - LOVD
-/. 2 - c.631T>C r.(?) p.(Tyr211His) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.784+20C>T r.(=) p.(=) - likely benign g.100503620G>A - HPSE2(NM_021828.4):c.784+20C>T - HPSE2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/?, -?/? 4 8-9 c.1099-4166_1320+840delins23 r.(?) p.(Val367_Arg592delinsAlaGlyThrTyrAspLeu) - likely benign, pathogenic (recessive) g.? - p.V367_P440del - HPSE2_000001 - PubMed: Daly 2010 - - Germline - - - - - LOVD
-?/. 1 - c.1321-18C>T r.(=) p.(=) - likely benign g.100249971G>A - HPSE2(NM_001166246.1):c.1321-18C>T - HPSE2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/?, -?/? 2 10 c.1414C>T r.(?) p.(Arg472*) - likely benign, pathogenic (recessive) g.100249860G>A g.98490103G>A p.R472X - HPSE2_000002 - PubMed: Daly 2010 - - Germline - - - - - LOVD
+/?, -?/? 7 10 c.1465_1466del r.(?) p.(Asn489Profs*126) - likely benign, pathogenic (recessive) g.100249808_100249809del g.98490051_98490052del c.1465_1466delAA, p.N489PfsX126 - HPSE2_000003 From parent with USAorigin mutation PubMed: Daly 2010, PubMed: Pang 2010 - - Germline, Unknown - - - - - LOVD
-?/. 1 - c.1476C>T r.(?) p.(Tyr492=) - likely benign g.100242530G>A - HPSE2(NM_021828.4):c.1476C>T (p.=) - HPSE2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/? 6 11 c.1516C>T r.(?) p.(Arg506*) - pathogenic (recessive) g.100242490G>A g.98482733G>A - - HPSE2_000004 - PubMed: Pang 2010 - - Unknown - - - - - LOVD
-/. 1 - c.1736A>T r.(?) p.(Tyr579Phe) - 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 - - - - - VKGL-NL_Groningen
-/. 1 - c.*17C>T r.(=) p.(=) - benign g.100219314G>A g.98459557G>A HPSE2(NM_001166246.1):c.*219C>T - HPSE2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
Legend   How to query