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Variant : CV494158 (NM_015102.5(NPHP4):c.902C>T (p.Pro301Leu)) Homo sapiens

Symbol: CV494158
Name: NM_015102.5(NPHP4):c.902C>T (p.Pro301Leu)
Condition: not specified [RCV000593557]
Clinical Significance: uncertain significance
Last Evaluated: 06/27/2017
Review Status: criteria provided, single submitter
Related Genes: NPHP4  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant|missense variant
Evidence: clinical testing
HGVS Name(s): NG_011724.2:g.49312C>T
NC_000001.11:g.5948160G>A
NC_000001.10:g.6008220G>A
NP_055917.1:p.Pro301Leu
NM_001291593.2:c.-465C>T
NM_001291594.2:c.-465C>T
NM_015102.5:c.902C>T
NR_111987.1:n.1170C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,948,160 - 5,948,160CLINVAR
GRCh3716,008,220 - 6,008,220CLINVAR
Cytogenetic Map11p36.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13523884
Created: 2018-04-10
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.