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Variant : CV511486 (NM_001904.4(CTNNB1):c.1745_1753del (p.Arg582_Val584del)) Homo sapiens

Symbol: CV511486
Name: NM_001904.4(CTNNB1):c.1745_1753del (p.Arg582_Val584del)
Condition: Inborn genetic diseases [RCV000623506]
Clinical Significance: uncertain significance
Last Evaluated: 09/30/2015
Review Status: criteria provided, single submitter
Related Genes: CTNNB1  
Variant Type: deletion (SO:0001822)
Source: CLINVAR
Molecular Consequence: inframe_deletion
Evidence: clinical testing
HGVS Name(s): NM_001330729.2:c.1724_1732del
NM_001098209.2:c.1745_1753del
NM_001098210.2:c.1745_1753del
NM_001904.4:c.1745_1753del
NG_013302.2:g.41335_41343del
NC_000003.12:g.41235785_41235793del
NC_000003.11:g.41277276_41277284del
NM_001904.3:c.1745_1753delGGGATGTTC
NP_001317658.1:p.Arg575_Val577del
NP_001091679.1:p.Arg582_Val584del
NP_001091680.1:p.Arg582_Val584del
NP_001895.1:p.Arg582_Val584del
Position
Human AssemblyChrPosition (strand)Source
GRCh38341,235,785 - 41,235,793CLINVAR
GRCh37341,277,276 - 41,277,284CLINVAR
Cytogenetic Map33p22.1CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13531640
Created: 2018-05-08
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.