Variant #0000880501 (NC_000002.11:g.110600599_111179168del, NM_000272.3:c.0 (NPHP1))
Individual ID |
00418887 |
Chromosome |
2 |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.110600599_111179168del |
DNA change (hg38) |
g.109843022_110421591del |
Published as |
deletion including NPHP1 |
ISCN |
- |
DB-ID |
NPHP1_000075 See all 48 reported entries |
Variant remarks |
homozygous |
Reference |
PubMed: Amiri 2016 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2022-10-10 17:17:24 +02:00 (CEST) |
Date last edited |
2022-10-10 17:19:51 +02:00 (CEST) |

Variant on transcripts
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