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Variant : CV249993 (NM_015102.5(NPHP4):c.4141-11C>T) Homo sapiens

Symbol: CV249993
Name: NM_015102.5(NPHP4):c.4141-11C>T
Condition: Nephronophthisis [RCV000286079]|Renal dysplasia and retinal aplasia [RCV000377961]|not specified [RCV000246011]
Clinical Significance: likely benign|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): NG_011724.2:g.134056C>T
NC_000001.11:g.5863416G>A
NC_000001.10:g.5923476G>A
NM_015102.3:c.4141-11C>T
NM_001291594.2:c.2605-11C>T
NM_015102.5:c.4141-11C>T
NM_001291593.2:c.2602-11C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,863,416 - 5,863,416CLINVAR
GRCh3715,923,476 - 5,923,476CLINVAR
Cytogenetic Map11p36.31CLINVAR
Trait Synonyms: AllHighlyPenetrant; juvenile nephronophthisis; Senior-Loken syndrome



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11546090
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2019-11-12
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.