rs386833873

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;CT)	3	Carrier of a Finnish congenital nephrotic syndrome (NPHS1) mutation
(CT;CT)	0	common in clinvar

Make rs386833873(-;-)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35851609

Gene	KIRREL2, NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833873
dbSNP (classic)	rs386833873
ClinGen	rs386833873
ebi	rs386833873
HLI	rs386833873
Exac	rs386833873
Gnomad	rs386833873
Varsome	rs386833873
LitVar	rs386833873
Map	rs386833873
PheGenI	rs386833873
Biobank	rs386833873
1000 genomes	rs386833873
hgdp	rs386833873
ensembl	rs386833873
geneview	rs386833873
scholar	rs386833873
google	rs386833873
pharmgkb	rs386833873
gwascentral	rs386833873
openSNP	rs386833873
23andMe	rs386833873
SNPshot	rs386833873
SNPdbe	rs386833873
MSV3d	rs386833873
GWAS Ctlg	rs386833873

Max Magnitude

3

aka c.121_122delCT (p.Leu41Aspfs)

ClinVar
Risk	rs386833873(-;-)
Alt	rs386833873(-;-)
Reference	Rs386833873(CT;CT)
Significance	Pathogenic
Disease	Finnish congenital nephrotic syndrome
Variation	info
Gene	NPHS1 KIRREL2
CLNDBN	Finnish congenital nephrotic syndrome
Reversed	1
HGVS	NC_000019.9:g.36342511_36342512delAG
CLNSRC	ClinVar
CLNACC	RCV000049844.2,

[PMID 9660941] Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome.

[PMID 9915943] Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.