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

Variant : CV586074 (NM_015102.5(NPHP4):c.96G>T (p.Gln32His)) Homo sapiens

Symbol: CV586074
Name: NM_015102.5(NPHP4):c.96G>T (p.Gln32His)
Condition: not provided [RCV000730436]
Clinical Significance: uncertain significance
Last Evaluated: 11/15/2017
Review Status: criteria provided, single submitter
Related Genes: NPHP4  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant|intron variant
Evidence: clinical testing
HGVS Name(s): NM_015102.5:c.96G>T
NG_011724.2:g.11278G>T
NC_000001.11:g.5986194C>A
NC_000001.10:g.6046254C>A
NP_055917.1:p.Gln32His
NM_001291593.2:c.-1134G>T
NM_001291594.2:c.-1088+6050G>T
NR_111987.1:n.364G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,986,194 - 5,986,194CLINVAR
GRCh3716,046,254 - 6,046,254CLINVAR
Cytogenetic Map11p36.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13834824
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.