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Variant : CV491360 (NM_015102.5(NPHP4):c.280-5T>G) Homo sapiens

Symbol: CV491360
Name: NM_015102.5(NPHP4):c.280-5T>G
Condition: not specified [RCV000592053]
Clinical Significance: uncertain significance
Last Evaluated: 01/13/2017
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): NM_001291594.2:c.-1087-5T>G
NM_001291593.2:c.-950-5T>G
NM_015102.5:c.280-5T>G
NG_011724.2:g.28208T>G
NC_000001.11:g.5969264A>C
NC_000001.10:g.6029324A>C
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,969,264 - 5,969,264CLINVAR
GRCh3716,029,324 - 6,029,324CLINVAR
Cytogenetic Map11p36.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13522692
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.