Variant #0000873908 (NC_000019.9:g.36342212C>T, NM_004646.3:c.349G>A (NPHS1))
Individual ID |
00414704 |
Chromosome |
19 |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.36342212C>T |
DNA change (hg38) |
g.35851310C>T |
Published as |
NPHS1 19:41034052 (hg18) het HM080063 36.5% |
ISCN |
- |
DB-ID |
NPHS1_000001 See all 40 reported entries |
Variant remarks |
non-causative, heterozygous |
Reference |
PubMed: Bell 2011 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.32365 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2022-08-02 11:28:48 +02:00 (CEST) |
Date last edited |
2025-06-29 07:22:45 +02:00 (CEST) |

Variant on transcripts
Screenings
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