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

Variant : CV587281 (NM_015102.5(NPHP4):c.2556C>T (p.Asn852=)) Homo sapiens

Symbol: CV587281
Name: NM_015102.5(NPHP4):c.2556C>T (p.Asn852=)
Condition: not provided [RCV000731978]
Clinical Significance: uncertain significance
Last Evaluated: 02/27/2018
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_001291593.2:c.1017C>T
NM_015102.5:c.2556C>T
NG_011724.2:g.117303C>T
NC_000001.11:g.5880169G>A
NC_000001.10:g.5940229G>A
NP_055917.1:p.Asn852=
NM_001291594.2:c.1020C>T
NR_111987.1:n.2821C>T
NP_001278522.1:p.Asn339=
NP_001278523.1:p.Asn340=
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,880,169 - 5,880,169CLINVAR
GRCh3715,940,229 - 5,940,229CLINVAR
Cytogenetic Map11p36.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13836015
Created: 2019-01-08
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



NHLBI Logo

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