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Variant : CV101579 (NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val)) Homo sapiens

Symbol: CV101579
Name: NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val)
Condition: Nephronophthisis [RCV000292444]|Renal dysplasia and retinal aplasia [RCV000331197]|not specified [RCV000081715]
Clinical Significance: conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 11/09/2016
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: NPHP4  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant|non-coding transcript variant
Evidence: clinical testing
HGVS Name(s): NG_011724.2:g.129589C>T
NC_000001.11:g.5867883G>A
NC_000001.10:g.5927943G>A
NP_055917.1:p.Ala1110Val
NM_015102.3:c.3329C>T
NP_055917.1:p.Ala1110Val
NP_055917.1:p.Ala1110Val
NP_001278522.1:p.Ala597Val
NP_001278523.1:p.Ala598Val
O75161:p.Ala1110Val
NM_001291593.2:c.1790C>T
NM_001291594.2:c.1793C>T
NM_015102.5:c.3329C>T
NM_015102.4:c.3329C>T
NR_111987.1:n.4144C>T
NP_055917.1:p.Ala1110Val
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,867,883 - 5,867,883CLINVAR
GRCh3715,927,943 - 5,927,943CLINVAR
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: 8642595
Created: 2014-05-13
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.