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Variant : CV102531 (NM_198270.4(NHS):c.302_337dup (p.Glu101_Ala112dup)) Homo sapiens

Symbol: CV102531
Name: NM_198270.4(NHS):c.302_337dup (p.Glu101_Ala112dup)
Condition: History of neurodevelopmental disorder [RCV000717937]|Nance-Horan syndrome [RCV000538726]|Neurodevelopmental [RCV000717937]|not provided [RCV000082800]
Clinical Significance: uncertain significance
Last Evaluated: 05/31/2017
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: NHS  
Variant Type: duplication (SO:0001821)
Source: CLINVAR
Molecular Consequence: inframe_insertion|inframe_variant
Evidence: clinical testing
HGVS Name(s): NG_011553.2:g.5640_5675dup
NM_001291867.2:c.302_337dup
NM_198270.4:c.302_337dup
NC_000023.11:g.17376059_17376094dup
NP_001278796.1:p.Glu101_Ala112dup
NP_938011.1:p.Glu101_Ala112dup
NC_000023.10:g.17394182_17394217dup
NM_198270.2:c.302_337dupAGGCGGCGCCCGCAGCCGGCGAGGCGTCCTCGGCGG
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,376,059 - 17,376,094CLINVAR
GRCh37X17,394,182 - 17,394,217CLINVAR
Cytogenetic MapXXp22.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8643548
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-09-10
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.