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Variant : CV493703 (NM_015102.5(NPHP4):c.222G>A (p.Thr74=)) Homo sapiens

Symbol: CV493703
Name: NM_015102.5(NPHP4):c.222G>A (p.Thr74=)
Condition: not specified [RCV000596281]
Clinical Significance: uncertain significance
Last Evaluated: 05/25/2017
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): NC_000001.10:g.6038387C>T
NP_055917.1:p.Thr74=
NC_000001.11:g.5978327C>T
NG_011724.2:g.19145G>A
NM_001291593.2:c.-1008G>A
NM_001291594.2:c.-1087-9068G>A
NM_015102.5:c.222G>A
NR_111987.1:n.490G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,978,327 - 5,978,327CLINVAR
GRCh3716,038,387 - 6,038,387CLINVAR
Cytogenetic Map11p36.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13517062
Created: 2018-04-10
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.