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Variant : CV491223 (NM_015102.5(NPHP4):c.1478C>T (p.Pro493Leu)) Homo sapiens

Symbol: CV491223
Name: NM_015102.5(NPHP4):c.1478C>T (p.Pro493Leu)
Condition: not specified [RCV000594257]
Clinical Significance: uncertain significance
Last Evaluated: 01/29/2018
Review Status: criteria provided, single submitter
Related Genes: NPHP4  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.5909177G>A
NC_000001.10:g.5969237G>A
NG_011724.2:g.88295C>T
NP_055917.1:p.Pro493Leu
NM_015102.5:c.1478C>T
NM_001291594.2:c.76-3394C>T
NM_001291593.2:c.76-3397C>T
NR_111987.1:n.1746C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,909,177 - 5,909,177CLINVAR
GRCh3715,969,237 - 5,969,237CLINVAR
Cytogenetic Map11p36.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13515421
Created: 2018-04-10
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.