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Variant : CV221112 (NM_015102.5(NPHP4):c.136-4del) Homo sapiens

Symbol: CV221112
Name: NM_015102.5(NPHP4):c.136-4del
Condition: Nephronophthisis [RCV000204739]|Renal dysplasia and retinal aplasia [RCV000308778]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 06/28/2017
Review Status: criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: NPHP4  
Variant Type: deletion (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_001291594.2:c.-1087-9158del
NM_001291593.2:c.-1094-4del
NM_015102.4:c.136-4delC
NM_015102.3:c.136-4delC
NM_015102.4:c.136-4delC
NM_015102.5:c.136-4del
NM_015102.3:c.136-4delC
NG_011724.2:g.19055del
NC_000001.10:g.6038478del
NC_000001.11:g.5978418del
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,978,417 - 5,978,417CLINVAR
GRCh3716,038,477 - 6,038,477CLINVAR
Cytogenetic Map11p36.31CLINVAR
Trait Synonyms: juvenile nephronophthisis; Senior-Loken syndrome



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10767451
Created: 2016-02-09
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.