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Variant : CV26066 (NM_198270.4(NHS):c.115C>T (p.Gln39Ter)) Homo sapiens

Symbol: CV26066
Name: NM_198270.4(NHS):c.115C>T (p.Gln39Ter)
Condition: Nance-Horan syndrome [RCV000011774]
Clinical Significance: pathogenic
Last Evaluated: 05/07/2015
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: NHS  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: stop-gain|nonsense
Evidence: literature only
HGVS Name(s): NC_000023.11:g.17375872C>T
NC_000023.10:g.17393995C>T
NM_198270.2:c.115C>T
NP_938011.1:p.Gln39Ter
NG_011553.2:g.5453C>T
NM_198270.4:c.115C>T
NG_011553.1:g.5453C>T
NP_001278796.1:p.Gln39Ter
NM_001291867.2:c.115C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,375,872 - 17,375,872CLINVAR
GRCh37X17,393,995 - 17,393,995CLINVAR
Cytogenetic MapXXp22.2CLINVAR
Age Of Onset: neonatal/infancy



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8598643
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-09-06
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.