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Variant : CV283060 (NM_015102.5(NPHP4):c.1503+10G>A) Homo sapiens

Symbol: CV283060
Name: NM_015102.5(NPHP4):c.1503+10G>A
Condition: Nephronophthisis [RCV000341292]|Renal dysplasia and retinal aplasia [RCV000399273]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: NPHP4  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_001291594.2:c.76-3359G>A
NM_001291593.2:c.76-3362G>A
NG_011724.2:g.88330G>A
NC_000001.11:g.5909142C>T
NC_000001.10:g.5969202C>T
NM_015102.3:c.1503+10G>A
NM_015102.5:c.1503+10G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,909,142 - 5,909,142CLINVAR
GRCh3715,969,202 - 5,969,202CLINVAR
Cytogenetic Map11p36.31CLINVAR
Trait Synonyms: juvenile nephronophthisis; Senior-Loken syndrome



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11580691
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.