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Variant : CV585380 (NM_015102.5(NPHP4):c.3810G>C (p.Glu1270Asp)) Homo sapiens

Symbol: CV585380
Name: NM_015102.5(NPHP4):c.3810G>C (p.Glu1270Asp)
Condition: not provided [RCV000729577]
Clinical Significance: uncertain significance
Last Evaluated: 10/02/2017
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): NM_001291594.2:c.2274G>C
NM_015102.5:c.3810G>C
NG_011724.2:g.132364G>C
NC_000001.11:g.5865108C>G
NC_000001.10:g.5925168C>G
NP_055917.1:p.Glu1270Asp
NM_001291593.2:c.2271G>C
NR_111987.1:n.4625G>C
NP_001278522.1:p.Glu757Asp
NP_001278523.1:p.Glu758Asp
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,865,108 - 5,865,108CLINVAR
GRCh3715,925,168 - 5,925,168CLINVAR
Cytogenetic Map11p36.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13834138
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.