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 |

Variant on transcripts
Screenings
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