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

Variant : CV19897 (NM_023067.4(FOXL2):c.804dup (p.Gly269fs)) Homo sapiens

Symbol: CV19897
Name: NM_023067.4(FOXL2):c.804dup (p.Gly269fs)
Condition: Blepharophimosis, ptosis, and epicanthus inversus [RCV000192036]|Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 [RCV000005133]|Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 [RCV000005132]|not provided [RCV000727228]
Clinical Significance: pathogenic
Last Evaluated: 03/14/2017
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: FOXL2  
Variant Type: duplication (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing|literature only
HGVS Name(s): NC_000003.12:g.138945919dupG
p.[Gly269Argfs*265]
NM_023067.4:c.804dup
NG_012454.1:g.6222dup
NM_023067.3:c.804dupC
p.(Gly269ArgfsTer265)
NC_000003.12:g.138945924dup
NC_000003.11:g.138664766dup
NP_075555.1:p.Gly269ArgfsTer265
NP_075555.1:p.Gly269fs
NG_029796.1:g.3691dup
Position
Human AssemblyChrPosition (strand)Source
GRCh383138,945,918 - 138,945,919CLINVAR
GRCh373138,664,760 - 138,664,761CLINVAR
Cytogenetic Map33q22.3CLINVAR
Trait Synonyms: Blepharophimosis syndrome type 1; Blepharophimosis syndrome type 2; Blepharophimosis, ptosis, and epicanthus inversus type 2; Blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure; BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I; BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II; Blepharophimosis, ptosis, epicanthus inversus type 1; Blepharophimosis, ptosis, epicanthus inversus with ovarian failure; BPES I; BPES type 1; BPES type 2; BPES with ovarian failure; BPES with premature ovarian failure; BPES without ovarian failure; BPES without premature ovarian failure
Age Of Onset: neonatal
Prevalence: 1-9 / 100 000



References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8558319
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE



NHLBI Logo

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