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Variant : CV471426 (NM_198270.4(NHS):c.277G>T (p.Glu93Ter)) Homo sapiens

Symbol: CV471426
Name: NM_198270.4(NHS):c.277G>T (p.Glu93Ter)
Condition: Nance-Horan syndrome [RCV000526164]
Clinical Significance: pathogenic
Last Evaluated: 11/22/2016
Review Status: criteria provided, single submitter
Related Genes: NHS  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NG_011553.2:g.5615G>T
NC_000023.11:g.17376034G>T
NC_000023.10:g.17394157G>T
NP_938011.1:p.Glu93Ter
NM_001291867.2:c.277G>T
NM_198270.4:c.277G>T
NM_198270.3:c.277G>T
NP_001278796.1:p.Glu93Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,376,034 - 17,376,034CLINVAR
GRCh37X17,394,157 - 17,394,157CLINVAR
Cytogenetic MapXXp22.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13497821
Created: 2018-01-09
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.