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Variant : CV19905 (NM_023067.4(FOXL2):c.855_871dup (p.His291fs)) Homo sapiens

Symbol: CV19905
Name: NM_023067.4(FOXL2):c.855_871dup (p.His291fs)
Condition: Blepharophimosis, ptosis, and epicanthus inversus [RCV000192040]|Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 [RCV000005142]|not provided [RCV000599160]
Clinical Significance: pathogenic
Last Evaluated: 02/13/2018
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.138945852_138945868dup17
p.[His291Argfs*71]
NM_023067.4:c.855_871dup
NG_012454.1:g.6273_6289dup
NM_023067.3:c.855_871dup17
p.(His291ArgfsTer71)
NG_029796.1:g.3630_3646dup
NC_000003.12:g.138945863_138945879dup
NC_000003.11:g.138664705_138664721dup
NP_075555.1:p.His291ArgfsTer71
NP_075555.1:p.His291fs
Position
Human AssemblyChrPosition (strand)Source
GRCh383138,945,851 - 138,945,852CLINVAR
GRCh373138,664,693 - 138,664,694CLINVAR
Cytogenetic Map33q22.3CLINVAR
Trait Synonyms: Blepharophimosis syndrome type 1; BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I; Blepharophimosis, ptosis, epicanthus inversus type 1; Blepharophimosis, ptosis, epicanthus inversus with ovarian failure; BPES I; BPES type 1; BPES with ovarian failure; BPES with 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: 8558322
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.