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Variant : CV19903 (NM_023067.4(FOXL2):c.295C>T (p.Gln99Ter)) Homo sapiens

Symbol: CV19903
Name: NM_023067.4(FOXL2):c.295C>T (p.Gln99Ter)
Condition: Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 [RCV000005140]
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:0001587)
Source: CLINVAR
Molecular Consequence: 2kb upstream variant|neargene-5|nonsense
Evidence: literature only
HGVS Name(s): NG_012454.1:g.5713C>T
NC_000003.12:g.138946428G>A
NC_000003.11:g.138665270G>A
NP_075555.1:p.Gln99Ter
NM_023067.4:c.295C>T
NG_029796.1:g.4195G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh383138,946,428 - 138,946,428CLINVAR
GRCh373138,665,270 - 138,665,270CLINVAR
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: 8596603
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.