Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV26062 (NM_198270.4(NHS):c.2387dup (p.Ser797fs)) Homo sapiens

Symbol: CV26062
Name: NM_198270.4(NHS):c.2387dup (p.Ser797fs)
Condition: Nance-Horan syndrome [RCV000011770]
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:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: literature only
HGVS Name(s): NM_001291867.2:c.2450dup
NC_000023.11:g.17726556dup
NC_000023.10:g.17744676dup
NM_198270.3:c.2387dup
NP_001278797.1:p.Ser620fs
NP_001129496.1:p.Ser641fs
NP_938011.1:p.Ser797fs
NP_001278796.1:p.Ser818fs
NG_011553.2:g.356137dup
NM_001291868.2:c.1856dup
NM_001136024.4:c.1919dup
NM_198270.4:c.2387dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,726,556 - 17,726,556CLINVAR
GRCh37X17,744,676 - 17,744,676CLINVAR
Cytogenetic MapXXp22.13CLINVAR
Age Of Onset: neonatal/infancy



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8562109
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-09-10
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.