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Variant : CV200708 (NM_024741.3(ZNF408):c.1363C>T (p.His455Tyr)) Homo sapiens

Symbol: CV200708
Name: NM_024741.3(ZNF408):c.1363C>T (p.His455Tyr)
Condition: Exudative vitreoretinopathy 6 [RCV000186509]
Clinical Significance: pathogenic
Last Evaluated: 07/21/2015
Review Status: no assertion criteria provided
Related Genes: ZNF408  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): NC_000011.10:g.46705063C>T
NC_000011.9:g.46726613C>T
NP_079017.1:p.His455Tyr
Q9H9D4:p.His455Tyr
NG_052967.1:g.9297C>T
NM_001184751.2:c.1339C>T
NM_024741.3:c.1363C>T
NM_024741.2:c.1363C>T
NP_001171680.1:p.His447Tyr
Position
Human AssemblyChrPosition (strand)Source
GRCh381146,705,063 - 46,705,063CLINVAR
GRCh371146,726,613 - 46,726,613CLINVAR
Cytogenetic Map1111p11.2CLINVAR
Age Of Onset: infancy|neonatal



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10056611
Created: 2015-08-11
Species: Homo sapiens
Last Modified: 2019-12-03
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.