Variant #0000499588 (NC_000010.10:g.100995509dup, HPSE2(NM_021828.4):c.57dup)

Individual ID 00245674
Chromosome 10
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.100995509dup
DNA change (hg38) g.99235752dup
Published as p.A20RfsX45
ISCN -
DB-ID HPSE2_000008 See all 3 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) Retrieve
Owner LOVD
Database submission license No license selected
Created by Jacopo Celli
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HPSE2 NM_021828.4 -?/? 1 c.57dup r.(?) p.(Ala20Argfs*45)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000246786 DNA SEQ - - HPSE2 1 LOVD