Genomic variant #0000499593

Individual ID 00245675
Chromosome 10
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.100249808_100249809del
DNA change (hg38) -
Published as c.1465_1466delAA
ISCN -
DB-ID HPSE2_000003 See all 7 reported entries
Variant remarks From parent with USAorigin mutation
Reference PubMed: Pang 2010
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00032 View details
Owner -
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

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



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000246787 DNA SEQ - - HPSE2 2 -