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Variant : CV494207 (NM_015102.5(NPHP4):c.2989A>G (p.Asn997Asp)) Homo sapiens

Symbol: CV494207
Name: NM_015102.5(NPHP4):c.2989A>G (p.Asn997Asp)
Condition: not specified [RCV000595475]
Clinical Significance: uncertain significance
Last Evaluated: 06/29/2017
Review Status: criteria provided, single submitter
Related Genes: NPHP4  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_011724.2:g.122543A>G
NC_000001.10:g.5934989T>C
NP_055917.1:p.Asn997Asp
NC_000001.11:g.5874929T>C
NM_001291593.2:c.1450A>G
NM_001291594.2:c.1453A>G
NM_015102.5:c.2989A>G
NR_111987.1:n.3804A>G
NP_001278522.1:p.Asn484Asp
NP_001278523.1:p.Asn485Asp
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,874,929 - 5,874,929CLINVAR
GRCh3715,934,989 - 5,934,989CLINVAR
Cytogenetic Map11p36.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13516396
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.