Variant #0000499581 (NC_000010.10:g.100249808_100249809del, HPSE2(NM_021828.4):c.1465_1466del)

Individual ID 00245690
Chromosome 10
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.100249808_100249809del
DNA change (hg38) g.98490051_98490052del
Published as p.N489PfsX126
ISCN -
DB-ID HPSE2_000003 See all 7 reported entries
Variant remarks -
Reference PubMed: Daly 2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00015 View details
Owner LOVD
Database submission license No license selected
Created by Jacopo Celli
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HPSE2 NM_021828.4 +/? 10 c.1465_1466del r.(?) p.(Asn489Profs*126)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000246802 DNA SEQ - - HPSE2 1 LOVD