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Variant : CV19893 (NM_023067.4(FOXL2):c.672_701dup (p.Ala225_Ala234dup)) Homo sapiens

Symbol: CV19893
Name: NM_023067.4(FOXL2):c.672_701dup (p.Ala225_Ala234dup)
Condition: Blepharophimosis, ptosis, and epicanthus inversus [RCV000408801]|Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 [RCV000005127]|Blepharophimosis, ptosis, and epicanthus inversus, type II with Duane retraction syndrome [RCV000005128]
Clinical Significance: pathogenic
Last Evaluated: 01/01/2019
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:0001821)
Source: CLINVAR
Molecular Consequence: 2kb upstream variant|inframe_insertion|inframe_variant
Evidence: clinical testing|literature only
HGVS Name(s): p.[Ala225_Ala234dup]
NP_075555.1:p.Ala225_Ala234dup
NM_023067.4:c.672_701dup
NM_023067.3:c.672_701dup30
NG_012454.1:g.6090_6119dup
p.(Ala225_Ala234dup)
NG_029796.1:g.3797_3826dup
NC_000003.12:g.138946030_138946059dup
NC_000003.11:g.138664872_138664901dup
Position
Human AssemblyChrPosition (strand)Source
GRCh383138,946,021 - 138,946,022CLINVAR
GRCh373138,664,863 - 138,664,864CLINVAR
Cytogenetic Map33q22.3CLINVAR
Trait Synonyms: 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 II; BPES type 2; BPES with Duane retraction syndrome; BPES without ovarian failure; BPES without premature ovarian failure
Age Of Onset: neonatal
Prevalence: 1-9 / 100 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8596599
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-28
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.