Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV490213 (NM_015102.5(NPHP4):c.2109C>T (p.Leu703=)) Homo sapiens

Symbol: CV490213
Name: NM_015102.5(NPHP4):c.2109C>T (p.Leu703=)
Condition: not specified [RCV000598459]
Clinical Significance: uncertain significance
Last Evaluated: 08/29/2018
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): NG_011724.2:g.92821C>T
NC_000001.11:g.5904651G>A
NC_000001.10:g.5964711G>A
NP_055917.1:p.Leu703=
NM_015102.5:c.2109C>T
NM_001291593.2:c.570C>T
NM_001291594.2:c.573C>T
NR_111987.1:n.2374C>T
NP_001278522.1:p.Leu190=
NP_001278523.1:p.Leu191=
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,904,651 - 5,904,651CLINVAR
GRCh3715,964,711 - 5,964,711CLINVAR
Cytogenetic Map11p36.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13520209
Created: 2018-04-10
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.