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Variant : CV586278 (NM_015102.5(NPHP4):c.3174C>T (p.Thr1058=)) Homo sapiens

Symbol: CV586278
Name: NM_015102.5(NPHP4):c.3174C>T (p.Thr1058=)
Condition: not provided [RCV000730710]
Clinical Significance: uncertain significance
Last Evaluated: 12/11/2017
Review Status: criteria provided, single submitter
Related Genes: NPHP4  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_001291593.2:c.1635C>T
NM_001291594.2:c.1638C>T
NM_015102.5:c.3174C>T
NG_011724.2:g.122944C>T
NC_000001.11:g.5874528G>A
NC_000001.10:g.5934588G>A
NP_055917.1:p.Thr1058=
NR_111987.1:n.3989C>T
NP_001278522.1:p.Thr545=
NP_001278523.1:p.Thr546=
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,874,528 - 5,874,528CLINVAR
GRCh3715,934,588 - 5,934,588CLINVAR
Cytogenetic Map11p36.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13835025
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.