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Variant : CV192989 (NM_015102.5(NPHP4):c.3454C>T (p.Pro1152Ser)) Homo sapiens

Symbol: CV192989
Name: NM_015102.5(NPHP4):c.3454C>T (p.Pro1152Ser)
Condition: not specified [RCV000176491]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 07/26/2017
Review Status: criteria provided, single submitter
Related Genes: NPHP4  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant|non-coding transcript variant
Evidence: clinical testing
HGVS Name(s): NG_011724.2:g.129714C>T
NC_000001.11:g.5867758G>A
NC_000001.10:g.5927818G>A
NP_055917.1:p.Pro1152Ser
NM_001291593.2:c.1915C>T
NM_001291594.2:c.1918C>T
NM_015102.5:c.3454C>T
NR_111987.1:n.4269C>T
NP_001278522.1:p.Pro639Ser
NP_001278523.1:p.Pro640Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,867,758 - 5,867,758CLINVAR
GRCh3715,927,818 - 5,927,818CLINVAR
Cytogenetic Map11p36.31CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10051153
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.