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Variant : CV586353 (NM_015102.5(NPHP4):c.4220A>G (p.Tyr1407Cys)) Homo sapiens

Symbol: CV586353
Name: NM_015102.5(NPHP4):c.4220A>G (p.Tyr1407Cys)
Condition: not provided [RCV000730797]
Clinical Significance: uncertain significance
Last Evaluated: 12/06/2017
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): NR_111987.1:n.5035A>G
NP_001278522.1:p.Tyr894Cys
NM_015102.5:c.4220A>G
NG_011724.2:g.134146A>G
NC_000001.11:g.5863326T>C
NC_000001.10:g.5923386T>C
NP_055917.1:p.Tyr1407Cys
NM_001291593.2:c.2681A>G
NM_001291594.2:c.2684A>G
NP_001278523.1:p.Tyr895Cys
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,863,326 - 5,863,326CLINVAR
GRCh3715,923,386 - 5,923,386CLINVAR
Cytogenetic Map11p36.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13835098
Created: 2019-01-08
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.