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Variant : CV511212 (NM_006618.5(KDM5B):c.3112dup (p.Thr1038fs)) Homo sapiens

Symbol: CV511212
Name: NM_006618.5(KDM5B):c.3112dup (p.Thr1038fs)
Condition: Inborn genetic diseases [RCV000624253]
Clinical Significance: uncertain significance
Last Evaluated: 06/30/2017
Review Status: criteria provided, single submitter
Related Genes: KDM5B  
Variant Type: duplication (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.202736365dup
NM_001314042.1:c.3220dup
NG_050659.1:g.78043dup
NC_000001.10:g.202705493dup
NM_006618.3:c.3112dupA
NM_001347591.1:c.2977dup
NP_006609.3:p.Thr1038fs
NP_001300971.1:p.Thr1074fs
NP_001334520.1:p.Thr993fs
NM_006618.5:c.3112dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381202,736,364 - 202,736,365CLINVAR
GRCh371202,705,492 - 202,705,493CLINVAR
Cytogenetic Map11q32.1CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13532492
Created: 2018-05-08
Species: Homo sapiens
Last Modified: 2020-11-24
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.