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Variant : CV271239 (NM_015102.5(NPHP4):c.2458C>T (p.Arg820Trp)) Homo sapiens

Symbol: CV271239
Name: NM_015102.5(NPHP4):c.2458C>T (p.Arg820Trp)
Condition: not specified [RCV000264657]
Clinical Significance: likely benign
Last Evaluated: 08/25/2016
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): NG_011724.2:g.110159C>T
NC_000001.11:g.5887313G>A
NC_000001.10:g.5947373G>A
NP_055917.1:p.Arg820Trp
NM_015102.5:c.2458C>T
NM_001291593.2:c.919C>T
NM_001291594.2:c.922C>T
NR_111987.1:n.2723C>T
NP_001278522.1:p.Arg307Trp
NP_001278523.1:p.Arg308Trp
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,887,313 - 5,887,313CLINVAR
GRCh3715,947,373 - 5,947,373CLINVAR
Cytogenetic Map11p36.31CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11636196
Created: 2017-01-11
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.