Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV19900 (NM_023067.4(FOXL2):c.822C>G (p.Tyr274Ter)) Homo sapiens

Symbol: CV19900
Name: NM_023067.4(FOXL2):c.822C>G (p.Tyr274Ter)
Condition: Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 [RCV000005136]|Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 [RCV000005137]
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.6240C>G
NC_000003.12:g.138945901G>C
NC_000003.11:g.138664743G>C
NP_075555.1:p.Tyr274Ter
NG_029796.1:g.3668G>C
NM_023067.4:c.822C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh383138,945,901 - 138,945,901CLINVAR
GRCh373138,664,743 - 138,664,743CLINVAR
Cytogenetic Map33q22.3CLINVAR
Trait Synonyms: Blepharophimosis syndrome type 1; Blepharophimosis syndrome type 2; BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I; BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II; BPES I; BPES with ovarian failure; BPES without ovarian failure; BPES without premature ovarian failure



References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8596601
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.