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Variant : CV282880 (NM_014762.4(DHCR24):c.*2245A>T) Homo sapiens

Symbol: CV282880
Name: NM_014762.4(DHCR24):c.*2245A>T
Condition: Desmosterolosis [RCV000325062]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: DHCR24  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NG_008839.1:g.42261A>T
NC_000001.11:g.54849988T>A
NC_000001.10:g.55315661T>A
NM_014762.4:c.*2245A>T
NM_014762.3:c.*2245A>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38154,849,988 - 54,849,988CLINVAR
GRCh37155,315,661 - 55,315,661CLINVAR
Cytogenetic Map11p32.3CLINVAR
Age Of Onset: antenatal
Prevalence: <1 / 1 000 000



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11655315
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.