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Variant : CV275505 (NM_015102.5(NPHP4):c.3012G>A (p.Thr1004=)) Homo sapiens

Symbol: CV275505
Name: NM_015102.5(NPHP4):c.3012G>A (p.Thr1004=)
Condition: not specified [RCV000379083]
Clinical Significance: uncertain significance
Last Evaluated: 09/21/2016
Review Status: criteria provided, single submitter
Related Genes: NPHP4  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: non-coding transcript variant|synonymous variant
Evidence: clinical testing
HGVS Name(s): NG_011724.2:g.122566G>A
NC_000001.11:g.5874906C>T
NC_000001.10:g.5934966C>T
NP_055917.1:p.Thr1004=
NM_001291593.2:c.1473G>A
NM_001291594.2:c.1476G>A
NM_015102.5:c.3012G>A
NR_111987.1:n.3827G>A
NP_001278522.1:p.Thr491=
NP_001278523.1:p.Thr492=
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,874,906 - 5,874,906CLINVAR
GRCh3715,934,966 - 5,934,966CLINVAR
Cytogenetic Map11p36.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11642640
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.