Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV488341 (NM_015102.5(NPHP4):c.2940_2944dup (p.His982fs)) Homo sapiens

Symbol: CV488341
Name: NM_015102.5(NPHP4):c.2940_2944dup (p.His982fs)
Condition: Nephronophthisis 4 [RCV000595142]|Nephronophthisis [RCV000812054]
Clinical Significance: pathogenic
Last Evaluated: 11/20/2018
Review Status: criteria provided, single submitter
Related Genes: NPHP4  
Variant Type: duplication (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NM_015102.3:c.2940_2944dupGCTCC
NG_011724.2:g.122494_122498dup
NM_015102.4:c.2940_2944dupGCTCC
NM_001291593.2:c.1401_1405dup
NM_001291594.2:c.1404_1408dup
NM_015102.5:c.2940_2944dup
NC_000001.11:g.5874975_5874979dup
NC_000001.10:g.5935035_5935039dup
NP_001278523.1:p.His470fs
NP_055917.1:p.His982fs
NR_111987.1:n.3755_3759dup
NP_001278522.1:p.His469fs
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,874,974 - 5,874,978CLINVAR
GRCh3715,935,034 - 5,935,038CLINVAR
Cytogenetic Map11p36.31CLINVAR
Trait Synonyms: juvenile nephronophthisis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13516136
Created: 2018-04-10
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.