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Variant : CV19896 (NM_023067.4(FOXL2):c.178_192dup (p.Val60_Ala64dup)) Homo sapiens

Symbol: CV19896
Name: NM_023067.4(FOXL2):c.178_192dup (p.Val60_Ala64dup)
Condition: Blepharophimosis, ptosis, and epicanthus inversus [RCV000785831]|Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 [RCV000005131]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 04/17/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: FOXL2  
Variant Type: duplication (SO:0001821)
Source: CLINVAR
Molecular Consequence: inframe_insertion|inframe_variant
Evidence: clinical testing|literature only
HGVS Name(s): NC_000003.12:g.138946532_138946546dup
NC_000003.11:g.138665374_138665388dup
NP_075555.1:p.Val60_Ala64dup
NM_023067.4:c.178_192dup
NG_012454.1:g.5596_5610dup
p.(Val60_Ala64dup)
NG_029796.1:g.4299_4313dup
Position
Human AssemblyChrPosition (strand)Source
GRCh383138,946,530 - 138,946,531CLINVAR
GRCh373138,665,372 - 138,665,373CLINVAR
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



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8558318
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.