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
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