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Variant : CV623739 (NM_033109.5:c.652A>T) Homo sapiens

Symbol: CV623739
Name: NM_033109.5:c.652A>T
Condition: Neurodevelopmental disorder [RCV000787432]
Clinical Significance: pathogenic
Last Evaluated: 04/09/2019
Review Status: no assertion criteria provided
Related Genes: PNPT1   SATB2  
Variant Type: single nucleotide variant (SO:0001483)
Evidence: clinical testing
HGVS Name(s): NM_033109.5:c.652A>T
Human AssemblyChrPosition (strand)Source
Cytogenetic Map22q33.1CLINVAR

Disease Annotations
References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 14698838
Created: 2019-08-06
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE


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