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Variant : CV281526 (NM_015102.5(NPHP4):c.*128A>C) Homo sapiens

Symbol: CV281526
Name: NM_015102.5(NPHP4):c.*128A>C
Condition: Nephronophthisis [RCV000260041]|Renal dysplasia and retinal aplasia [RCV000389549]
Clinical Significance: likely benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: NPHP4  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NG_011724.2:g.134335A>C
NC_000001.11:g.5863137T>G
NC_000001.10:g.5923197T>G
NM_015102.3:c.*128A>C
NM_001291593.2:c.*128A>C
NM_001291594.2:c.*128A>C
NM_015102.5:c.*128A>C
NR_111987.1:n.5224A>C
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,863,137 - 5,863,137CLINVAR
GRCh3715,923,197 - 5,923,197CLINVAR
Cytogenetic Map11p36.31CLINVAR
Trait Synonyms: juvenile nephronophthisis; Senior-Loken syndrome



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11582446
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.