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Variant : CV19892 (NM_023067.4(FOXL2):c.655C>T (p.Gln219Ter)) Homo sapiens

Symbol: CV19892
Name: NM_023067.4(FOXL2):c.655C>T (p.Gln219Ter)
Condition: Blepharophimosis, ptosis, and epicanthus inversus [RCV000192033]|Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 [RCV000005126]
Clinical Significance: pathogenic
Last Evaluated: 11/03/2016
Review Status: classified by single submitter|criteria provided, 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: clinical testing|literature only
HGVS Name(s): NG_012454.1:g.6073C>T
NC_000003.12:g.138946068G>A
NC_000003.11:g.138664910G>A
NM_023067.4:c.655C>T
p.[Gln219*]
NG_029796.1:g.3835G>A
NM_023067.3:c.655C>T
NP_075555.1:p.Gln219Ter
NP_075555.1:p.Gln219Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh383138,946,068 - 138,946,068CLINVAR
GRCh373138,664,910 - 138,664,910CLINVAR
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: 8596598
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.