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

Variant : CV208983 (NM_198270.4(NHS):c.176_177delinsAA (p.Arg59Gln)) Homo sapiens

Symbol: CV208983
Name: NM_198270.4(NHS):c.176_177delinsAA (p.Arg59Gln)
Condition: Nance-Horan syndrome [RCV000764868]|not specified [RCV000195061]
Clinical Significance: uncertain significance
Last Evaluated: 10/31/2018
Review Status: criteria provided, single submitter
Related Genes: NHS  
Variant Type: indel (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_198270.2:c.176_177delinsAA
NP_938011.1:p.Arg59Gln
NM_001291867.2:c.176_177delinsAA
NM_198270.4:c.176_177delinsAA
NG_011553.2:g.5514_5515delinsAA
NC_000023.11:g.17375933_17375934delinsAA
NC_000023.10:g.17394056_17394057delinsAA
NP_001278796.1:p.Arg59Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,375,933 - 17,375,934CLINVAR
GRCh37X17,394,056 - 17,394,057CLINVAR
Cytogenetic MapXXp22.2CLINVAR
Trait Synonyms: AllHighlyPenetrant; Cataract 40; CATARACT 40 WITH OR WITHOUT MICROCORNEA; CATARACT, CONGENITAL TOTAL, WITH POSTERIOR SUTURAL OPACITIES IN HETEROZYGOTES; CATARACT, CONGENITAL, WITH MICROCORNEA AND MICROPHTHALMIA; Cataract, congenital, X-linked; MICROPHTHALMIA AND CATARACT 3; Microphthalmia, isolated, with cataract 3; Zonular cataract and nystagmus



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10407004
Created: 2015-11-10
Species: Homo sapiens
Last Modified: 2019-09-06
Status: ACTIVE



NHLBI Logo

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