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Variant : CV26065 (NM_198270.4(NHS):c.718+1dup) Homo sapiens

Symbol: CV26065
Name: NM_198270.4(NHS):c.718+1dup
Condition: Nance-Horan syndrome [RCV000011773]
Clinical Significance: pathogenic
Last Evaluated: 05/07/2015
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: NHS  
Variant Type: duplication (SO:0001575)
Source: CLINVAR
Molecular Consequence: frameshift variant|splice donor variant
Evidence: literature only
HGVS Name(s): NM_001291867.2:c.718+1dup
NM_198270.4:c.718+1dup
NG_011553.2:g.317476dup
NC_000023.11:g.17687895dup
NM_001136024.4:c.187+1dup
NM_001291868.2:c.187+1dup
NC_000023.10:g.17706015dup
NM_198270.3:c.718dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,687,894 - 17,687,894CLINVAR
GRCh37X17,706,014 - 17,706,014CLINVAR
Cytogenetic MapXXp22.13CLINVAR
Age Of Onset: neonatal/infancy



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8562111
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.