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Variant : CV589788 (NM_015102.5(NPHP4):c.857G>T (p.Arg286Leu)) Homo sapiens

Symbol: CV589788
Name: NM_015102.5(NPHP4):c.857G>T (p.Arg286Leu)
Condition: not provided [RCV000735187]
Clinical Significance: uncertain significance
Last Evaluated: 09/18/2018
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): NM_015102.5:c.857G>T
NG_011724.2:g.49267G>T
NC_000001.11:g.5948205C>A
NC_000001.10:g.6008265C>A
NP_055917.1:p.Arg286Leu
NM_001291594.2:c.-510G>T
NR_111987.1:n.1125G>T
NM_001291593.2:c.-510G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,948,205 - 5,948,205CLINVAR
GRCh3716,008,265 - 6,008,265CLINVAR
Cytogenetic Map11p36.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13838483
Created: 2019-01-08
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.