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Variant : CV39464 (NM_023067.4(FOXL2):c.205G>A (p.Glu69Lys)) Homo sapiens

Symbol: CV39464
Name: NM_023067.4(FOXL2):c.205G>A (p.Glu69Lys)
Condition: Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 [RCV000023464]
Clinical Significance: pathogenic
Last Evaluated: 04/17/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: FOXL2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: 2kb upstream variant|missense|missense variant
Evidence: literature only
HGVS Name(s): NG_012454.1:g.5623G>A
NC_000003.12:g.138946518C>T
NC_000003.11:g.138665360C>T
NP_075555.1:p.Glu69Lys
P58012:p.Glu69Lys
NM_023067.4:c.205G>A
NG_029796.1:g.4285C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh383138,946,518 - 138,946,518CLINVAR
GRCh373138,665,360 - 138,665,360CLINVAR
Cytogenetic Map33q22.3CLINVAR
Trait Synonyms: Blepharophimosis syndrome type 2; BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II; 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: 8602246
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.