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Variant : CV19899 (NM_023067.4(FOXL2):c.157C>T (p.Gln53Ter)) Homo sapiens

Symbol: CV19899
Name: NM_023067.4(FOXL2):c.157C>T (p.Gln53Ter)
Condition: Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 [RCV000005135]|not provided [RCV000760402]
Clinical Significance: pathogenic
Last Evaluated: 07/23/2018
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.5575C>T
NC_000003.12:g.138946566G>A
NC_000003.11:g.138665408G>A
NP_075555.1:p.Gln53Ter
NM_023067.4:c.157C>T
NG_029796.1:g.4333G>A
NM_023067.3:c.157C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh383138,946,566 - 138,946,566CLINVAR
GRCh373138,665,408 - 138,665,408CLINVAR
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: 8596600
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.