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Variant : CV26064 (NM_198270.4(NHS):c.1117C>T (p.Arg373Ter)) Homo sapiens

Symbol: CV26064
Name: NM_198270.4(NHS):c.1117C>T (p.Arg373Ter)
Condition: Nance-Horan syndrome [RCV000011772]|not provided [RCV000082793]
Clinical Significance: pathogenic
Last Evaluated: 07/03/2018
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: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: stop-gain|nonsense
Evidence: literature only|clinical testing
HGVS Name(s): NM_198270.4:c.1117C>T
NM_198270.2:c.1117C>T
NM_001291867.2:c.1180C>T
NP_938011.1:p.Arg373*
NM_001291868.2:c.586C>T
NM_001136024.4:c.649C>T
NP_001278797.1:p.Arg196Ter
NP_001278796.1:p.Arg394Ter
NM_198270.3:c.1117C>T
NP_938011.1:p.Arg373*
NC_000023.11:g.17724370C>T
NC_000023.10:g.17742490C>T
NM_198270.2:c.1117C>T
NP_938011.1:p.Arg373*
NP_001129496.1:p.Arg217Ter
NP_938011.1:p.Arg373Ter
NG_011553.2:g.353951C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,724,370 - 17,724,370CLINVAR
GRCh37X17,742,490 - 17,742,490CLINVAR
Cytogenetic MapXXp22.13CLINVAR
Age Of Onset: neonatal/infancy



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8598642
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.