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Variant : CV281401 (NM_014762.4(DHCR24):c.-77C>T) Homo sapiens

Symbol: CV281401
Name: NM_014762.4(DHCR24):c.-77C>T
Condition: Desmosterolosis [RCV000355590]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: DHCR24  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_014762.3:c.-77C>T
NG_008839.1:g.5053C>T
NC_000001.11:g.54887196G>A
NC_000001.10:g.55352869G>A
NM_014762.4:c.-77C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38154,887,196 - 54,887,196CLINVAR
GRCh37155,352,869 - 55,352,869CLINVAR
Cytogenetic Map11p32.3CLINVAR
Age Of Onset: antenatal
Prevalence: <1 / 1 000 000



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11594120
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-07-16
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.