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Variant : CV193137 (NM_015102.5(NPHP4):c.3575G>A (p.Arg1192Gln)) Homo sapiens

Symbol: CV193137
Name: NM_015102.5(NPHP4):c.3575G>A (p.Arg1192Gln)
Condition: not specified [RCV000176676]
Clinical Significance: uncertain significance
Last Evaluated: 10/17/2014
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.131030G>A
NC_000001.11:g.5866442C>T
NC_000001.10:g.5926502C>T
NP_055917.1:p.Arg1192Gln
NM_001291594.2:c.2039G>A
NM_015102.5:c.3575G>A
NP_001278523.1:p.Arg680Gln
NM_001291593.2:c.2036G>A
NR_111987.1:n.4390G>A
NP_001278522.1:p.Arg679Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,866,442 - 5,866,442CLINVAR
GRCh3715,926,502 - 5,926,502CLINVAR
Cytogenetic Map11p36.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10051255
Created: 2015-07-14
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.