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Variant : CV490790 (NM_015102.5(NPHP4):c.673+9G>A) Homo sapiens

Symbol: CV490790
Name: NM_015102.5(NPHP4):c.673+9G>A
Condition: not specified [RCV000595172]
Clinical Significance: uncertain significance
Last Evaluated: 12/22/2016
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_001291593.2:c.-557+9G>A
NM_001291594.2:c.-694+9G>A
NM_015102.5:c.673+9G>A
NG_011724.2:g.35687G>A
NC_000001.11:g.5961785C>T
NC_000001.10:g.6021845C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,961,785 - 5,961,785CLINVAR
GRCh3716,021,845 - 6,021,845CLINVAR
Cytogenetic Map11p36.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13516161
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.