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Variant : CV282757 (NM_015102.5(NPHP4):c.3703C>T (p.Arg1235Cys)) Homo sapiens

Symbol: CV282757
Name: NM_015102.5(NPHP4):c.3703C>T (p.Arg1235Cys)
Condition: Nephronophthisis [RCV000407610]|Renal dysplasia and retinal aplasia [RCV000298425]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
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.2164C>T
NG_011724.2:g.132257C>T
NC_000001.11:g.5865215G>A
NC_000001.10:g.5925275G>A
NM_015102.3:c.3703C>T
NP_055917.1:p.Arg1235Cys
NM_001291594.2:c.2167C>T
NM_015102.5:c.3703C>T
NR_111987.1:n.4518C>T
NP_001278522.1:p.Arg722Cys
NP_001278523.1:p.Arg723Cys
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,865,215 - 5,865,215CLINVAR
GRCh3715,925,275 - 5,925,275CLINVAR
Cytogenetic Map11p36.31CLINVAR
Trait Synonyms: juvenile nephronophthisis; Senior-Loken syndrome



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11598568
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.