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Variant : CV511213 (NM_006618.5(KDM5B):c.529C>T (p.Arg177Ter)) Homo sapiens

Symbol: CV511213
Name: NM_006618.5(KDM5B):c.529C>T (p.Arg177Ter)
Condition: Inborn genetic diseases [RCV000623605]
Clinical Significance: uncertain significance
Last Evaluated: 02/20/2017
Review Status: criteria provided, single submitter
Related Genes: KDM5B  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NP_001300971.1:p.Arg177Ter
NC_000001.11:g.202773165G>A
NG_050659.1:g.41243C>T
NC_000001.10:g.202742293G>A
NM_001314042.1:c.529C>T
NM_006618.3:c.529C>T
NP_006609.3:p.Arg177Ter
NM_001347591.1:c.529C>T
NP_001334520.1:p.Arg177Ter
NM_006618.5:c.529C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381202,773,165 - 202,773,165CLINVAR
GRCh371202,742,293 - 202,742,293CLINVAR
Cytogenetic Map11q32.1CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13531757
Created: 2018-05-08
Species: Homo sapiens
Last Modified: 2020-11-17
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.