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Variant : CV221109 (NM_015102.5(NPHP4):c.3479C>T (p.Pro1160Leu)) Homo sapiens

Symbol: CV221109
Name: NM_015102.5(NPHP4):c.3479C>T (p.Pro1160Leu)
Condition: Nephronophthisis [RCV000205285]|Renal dysplasia and retinal aplasia [RCV000384533]|not specified [RCV000248751]
Clinical Significance: benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 08/07/2017
Review Status: criteria provided, conflicting interpretations|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): NG_011724.2:g.130363C>T
NC_000001.11:g.5867109G>A
NC_000001.10:g.5927169G>A
NM_015102.3:c.3479C>T
NP_055917.1:p.Pro1160Leu
NM_001291594.2:c.1943C>T
NM_015102.5:c.3479C>T
NM_015102.4:c.3479C>T
NR_111987.1:n.4294C>T
NP_001278522.1:p.Pro647Leu
NP_001278523.1:p.Pro648Leu
NM_001291593.2:c.1940C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,867,109 - 5,867,109CLINVAR
GRCh3715,927,169 - 5,927,169CLINVAR
Cytogenetic Map11p36.31CLINVAR
Trait Synonyms: AllHighlyPenetrant; juvenile nephronophthisis; Senior-Loken syndrome



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10767774
Created: 2016-02-09
Species: Homo sapiens
Last Modified: 2019-11-12
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.