Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV281551 (NM_015102.5(NPHP4):c.3046G>A (p.Val1016Ile)) Homo sapiens

Symbol: CV281551
Name: NM_015102.5(NPHP4):c.3046G>A (p.Val1016Ile)
Condition: Nephronophthisis [RCV000360589]|Renal dysplasia and retinal aplasia [RCV000392484]|not provided [RCV000731172]
Clinical Significance: uncertain significance
Last Evaluated: 12/27/2017
Review Status: criteria provided, single submitter
Related Genes: NPHP4  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001291593.2:c.1507G>A
NM_001291594.2:c.1510G>A
NM_015102.5:c.3046G>A
NR_111987.1:n.3861G>A
NP_001278522.1:p.Val503Ile
NP_001278523.1:p.Val504Ile
NG_011724.2:g.122816G>A
NC_000001.11:g.5874656C>T
NC_000001.10:g.5934716C>T
NM_015102.3:c.3046G>A
NP_055917.1:p.Val1016Ile
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,874,656 - 5,874,656CLINVAR
GRCh3715,934,716 - 5,934,716CLINVAR
Cytogenetic Map11p36.31CLINVAR
Trait Synonyms: juvenile nephronophthisis; Senior-Loken syndrome



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11594574
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.