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Variant : CV281353 (NM_014762.3(DHCR24):c.*180_*181delAA) Homo sapiens

Symbol: CV281353
Name: NM_014762.3(DHCR24):c.*180_*181delAA
Condition: Desmosterolosis [RCV000306915]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: DHCR24  
Variant Type: deletion (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_014762.3:c.*180_*181delAA
NC_000001.11:g.54852052_54852053delTT
NC_000001.10:g.55317725_55317726delTT
Position
Human AssemblyChrPosition (strand)Source
GRCh38154,852,052 - 54,852,053CLINVAR
GRCh37155,317,725 - 55,317,726CLINVAR
Cytogenetic Map11p32.3CLINVAR
Age Of Onset: antenatal
Prevalence: <1 / 1 000 000



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11652798
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-07-09
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.