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Variant : CV19898 (NM_023067.4(FOXL2):c.855_871del (p.Pro287fs)) Homo sapiens

Symbol: CV19898
Name: NM_023067.4(FOXL2):c.855_871del (p.Pro287fs)
Condition: Blepharophimosis, ptosis, and epicanthus inversus [RCV000192041]|Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 [RCV000005134]
Clinical Significance: pathogenic
Last Evaluated: 01/01/2018
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: FOXL2  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: literature only
HGVS Name(s): NC_000003.12:g.138945852_138945868del17
p.(Pro287AlafsTer241)
NC_000003.12:g.138945863_138945879del
NC_000003.11:g.138664705_138664721del
NP_075555.1:p.Pro287fs
NM_023067.4:c.855_871del
NG_029796.1:g.3630_3646del
NG_012454.1:g.6273_6289del
NP_075555.1:p.Pro287AlafsTer241
NM_023067.3:c.855_871del17
Position
Human AssemblyChrPosition (strand)Source
GRCh383138,945,852 - 138,945,868CLINVAR
GRCh373138,664,694 - 138,664,710CLINVAR
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 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: 8558320
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-08-04
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.