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Variant : CV19804 (NC_000002.12:g.(144114719_144303837)_(144566562_144681958)del) Homo sapiens

Symbol: CV19804
Name: NC_000002.12:g.(144114719_144303837)_(144566562_144681958)del
Condition: Mowat-Wilson syndrome [RCV000005031]
Clinical Significance: pathogenic
Last Evaluated: 11/26/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: GTDC1   LINC01412   TEX41   ZEB2   ZEB2-AS1  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Nucleotide Change: 300-kb del
Evidence: literature only
HGVS Name(s): NC_000002.12:g.(144114719_144303837)_(144566562_144681958)del
chr2:g.(AC009957.11_AC010130.12)_(AC009951.10_AC010090.7)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,303,837 - 144,566,562 (-)CLINVAR
Cytogenetic Map22q22CLINVAR
Age Of Onset: antenatal|neonatal/infancy



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8558273
Created: 2014-05-13
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.