Variant #0000813717 (NC_000003.11:g.132438619G>A, NM_153240.4:c.449C>T (NPHP3))
| Individual ID |
00385081 |
| Chromosome |
3 |
| Allele |
Both (homozygous) |
| Affects function (as reported) |
Probably affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
ACMG |
| Clinical classification |
likely pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.132438619G>A |
| DNA change (hg38) |
g.132719775G>A |
| Published as |
NPHP3 NM_153240: g.2685C>T, c.449C>T, p.A150V |
| ISCN |
- |
| DB-ID |
NPHP3_000044 See all 5 reported entries |
| Variant remarks |
- |
| Reference |
PubMed: Xu 2020 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
yes |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
0.00161 View details |
| Owner |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2021-10-06 17:52:46 +02:00 (CEST) |
| Date last edited |
2024-03-26 15:03:03 +01:00 (CET) |

Variant on transcripts
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