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Variant : CV19894 (NM_023067.4(FOXL2):c.53_54del (p.Pro18fs)) Homo sapiens

Symbol: CV19894
Name: NM_023067.4(FOXL2):c.53_54del (p.Pro18fs)
Condition: Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 [RCV000005129]
Clinical Significance: pathogenic
Last Evaluated: 04/17/2012
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): NM_023067.4:c.53_54del
NG_029796.1:g.4436_4437del
NG_012454.1:g.5471_5472del
NC_000003.12:g.138946669_138946670del
NC_000003.11:g.138665511_138665512del
NM_023067.3:c.53_54del
NP_075555.1:p.Pro18fs
Position
Human AssemblyChrPosition (strand)Source
GRCh383138,946,669 - 138,946,670CLINVAR
GRCh373138,665,511 - 138,665,512CLINVAR
Cytogenetic Map33q22.3CLINVAR
Trait Synonyms: Blepharophimosis syndrome type 1; BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I; BPES I; BPES with ovarian failure



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8558316
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.