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Variant : CV281556 (NM_015102.5(NPHP4):c.2701C>T (p.Pro901Ser)) Homo sapiens

Symbol: CV281556
Name: NM_015102.5(NPHP4):c.2701C>T (p.Pro901Ser)
Condition: Nephronophthisis [RCV000300044]|Renal dysplasia and retinal aplasia [RCV000354793]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: NPHP4  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NP_001278523.1:p.Pro389Ser
NG_011724.2:g.120263C>T
NC_000001.11:g.5877209G>A
NC_000001.10:g.5937269G>A
NM_015102.3:c.2701C>T
NP_055917.1:p.Pro901Ser
NM_015102.5:c.2701C>T
NR_111987.1:n.3253C>T
NP_001278522.1:p.Pro388Ser
NM_001291593.2:c.1162C>T
NM_001291594.2:c.1165C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,877,209 - 5,877,209CLINVAR
GRCh3715,937,269 - 5,937,269CLINVAR
Cytogenetic Map11p36.31CLINVAR
Trait Synonyms: juvenile nephronophthisis; Senior-Loken syndrome



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11651597
Created: 2017-01-11
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.