Variant #0000038901 (NC_000001.10:g.179544726G>T, NM_014625.2:c.274G>T (NPHS2))
| Individual ID |
00018453 |
| Chromosome |
1 |
| Allele |
Unknown |
| Affects function (as reported) |
Probably affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
likely pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.179544726G>T |
| DNA change (hg38) |
g.179575591C>A |
| Published as |
- |
| ISCN |
- |
| DB-ID |
NPHS2_000002 See all 10 reported entries |
| Variant remarks |
Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. |
| Reference |
PubMed: Santín et al. 2011 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Unknown |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Elisabet Ars Criach |
| Database submission license |
No license selected |
| Created by |
Elisabet Ars Criach |
| Date created |
2014-07-18 18:02:44 +02:00 (CEST) |
| Date last edited |
2014-07-25 16:58:36 +02:00 (CEST) |

Variant on transcripts
Screenings
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|