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Variant : CV587373 (NM_015102.5(NPHP4):c.3564C>A (p.Pro1188=)) Homo sapiens

Symbol: CV587373
Name: NM_015102.5(NPHP4):c.3564C>A (p.Pro1188=)
Condition: not provided [RCV000732100]
Clinical Significance: uncertain significance
Last Evaluated: 03/02/2018
Review Status: criteria provided, single submitter
Related Genes: NPHP4  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_015102.5:c.3564C>A
NG_011724.2:g.131019C>A
NC_000001.11:g.5866453G>T
NC_000001.10:g.5926513G>T
NP_055917.1:p.Pro1188=
NM_001291593.2:c.2025C>A
NM_001291594.2:c.2028C>A
NP_001278522.1:p.Pro675=
NP_001278523.1:p.Pro676=
NR_111987.1:n.4379C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,866,453 - 5,866,453CLINVAR
GRCh3715,926,513 - 5,926,513CLINVAR
Cytogenetic Map11p36.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13836104
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.