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Variant : CV191928 (NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp)) Homo sapiens

Symbol: CV191928
Name: NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp)
Condition: not provided [RCV000724060]|not specified [RCV000175206]
Clinical Significance: uncertain significance
Last Evaluated: 09/15/2018
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: NPHP4  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant|non-coding transcript variant
Evidence: clinical testing
HGVS Name(s): NG_011724.2:g.106503C>T
NC_000001.11:g.5890969G>A
NC_000001.10:g.5951029G>A
NP_055917.1:p.Arg735Trp
O75161:p.Arg735Trp
NR_111987.1:n.2468C>T
NP_001278522.1:p.Arg222Trp
NP_001278523.1:p.Arg223Trp
NM_015102.5:c.2203C>T
NM_001291593.2:c.664C>T
NM_001291594.2:c.667C>T
NM_015102.3:c.2203C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,890,969 - 5,890,969CLINVAR
GRCh3715,951,029 - 5,951,029CLINVAR
Cytogenetic Map11p36.31CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10050442
Created: 2015-07-14
Species: Homo sapiens
Last Modified: 2019-11-12
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.