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Variant : CV188072 (NM_198270.4(NHS):c.852+1del) Homo sapiens

Symbol: CV188072
Name: NM_198270.4(NHS):c.852+1del
Condition: Nance-Horan syndrome [RCV000170469]
Clinical Significance: pathogenic
Last Evaluated: 05/07/2015
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: NHS  
Variant Type: deletion (SO:0001575)
Source: CLINVAR
Molecular Consequence: frameshift variant|splice donor variant
Evidence: literature only
HGVS Name(s): NG_011553.2:g.322050del
NC_000023.11:g.17692469del
NC_000023.10:g.17710589del
NM_198270.3:c.852del
NM_001136024.4:c.321+1del
NM_001291868.2:c.321+1del
NM_001291867.2:c.852+1del
NM_198270.4:c.852+1del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,692,468 - 17,692,468CLINVAR
GRCh37X17,710,588 - 17,710,588CLINVAR
Cytogenetic MapXXp22.13CLINVAR
Age Of Onset: neonatal/infancy



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10044303
Created: 2015-06-09
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.