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Variant : CV212108 (NM_015102.5(NPHP4):c.1490C>G (p.Pro497Arg)) Homo sapiens

Symbol: CV212108
Name: NM_015102.5(NPHP4):c.1490C>G (p.Pro497Arg)
Condition: Nephronophthisis [RCV000199316]|Renal dysplasia and retinal aplasia [RCV000356919]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 06/14/2016
Review Status: criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: NPHP4  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NG_011724.2:g.88307C>G
NC_000001.11:g.5909165G>C
NC_000001.10:g.5969225G>C
NM_015102.3:c.1490C>G
NP_055917.1:p.Pro497Arg
NM_001291593.2:c.76-3385C>G
NR_111987.1:n.1758C>G
NM_015102.5:c.1490C>G
NM_001291594.2:c.76-3382C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,909,165 - 5,909,165CLINVAR
GRCh3715,969,225 - 5,969,225CLINVAR
Cytogenetic Map11p36.31CLINVAR
Trait Synonyms: juvenile nephronophthisis; Senior-Loken syndrome



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10408802
Created: 2015-11-10
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



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