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Variant : CV281564 (NM_015102.5(NPHP4):c.2419C>T (p.Arg807Cys)) Homo sapiens

Symbol: CV281564
Name: NM_015102.5(NPHP4):c.2419C>T (p.Arg807Cys)
Condition: Nephronophthisis [RCV000341820]|Renal dysplasia and retinal aplasia [RCV000377653]|not specified [RCV000595277]
Clinical Significance: uncertain significance
Last Evaluated: 12/12/2017
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): NG_011724.2:g.110120C>T
NC_000001.11:g.5887352G>A
NC_000001.10:g.5947412G>A
NM_015102.3:c.2419C>T
NP_055917.1:p.Arg807Cys
NM_015102.5:c.2419C>T
NM_001291593.2:c.880C>T
NM_001291594.2:c.883C>T
NR_111987.1:n.2684C>T
NP_001278522.1:p.Arg294Cys
NP_001278523.1:p.Arg295Cys
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,887,352 - 5,887,352CLINVAR
GRCh3715,947,412 - 5,947,412CLINVAR
Cytogenetic Map11p36.31CLINVAR
Trait Synonyms: juvenile nephronophthisis; Senior-Loken syndrome



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11592741
Created: 2017-01-11
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.