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Variant : CV493104 (NM_015102.5(NPHP4):c.678C>T (p.Asp226=)) Homo sapiens

Symbol: CV493104
Name: NM_015102.5(NPHP4):c.678C>T (p.Asp226=)
Condition: not specified [RCV000593145]
Clinical Significance: uncertain significance
Last Evaluated: 05/03/2017
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): NG_011724.2:g.44640C>T
NC_000001.11:g.5952832G>A
NC_000001.10:g.6012892G>A
NP_055917.1:p.Asp226=
NM_001291593.2:c.-556-4581C>T
NM_001291594.2:c.-689C>T
NM_015102.5:c.678C>T
NR_111987.1:n.946C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,952,832 - 5,952,832CLINVAR
GRCh3716,012,892 - 6,012,892CLINVAR
Cytogenetic Map11p36.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13523552
Created: 2018-04-10
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.