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Variant : CV281592 (NM_015102.4(NPHP4):c.-235G>A) Homo sapiens

Symbol: CV281592
Name: NM_015102.4(NPHP4):c.-235G>A
Condition: Nephronophthisis [RCV000288159]|Renal dysplasia and retinal aplasia [RCV000345426]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: NPHP4  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.5992440C>T
NM_015102.3:c.-235G>A
NG_011724.2:g.5032G>A
NG_047091.1:g.5143C>T
NC_000001.10:g.6052500C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,992,440 - 5,992,440CLINVAR
GRCh3716,052,500 - 6,052,500CLINVAR
Cytogenetic Map11p36.31CLINVAR
Trait Synonyms: juvenile nephronophthisis; Senior-Loken syndrome



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11586495
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.