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Variant : CV39534 (NM_014762.4(DHCR24):c.281G>A (p.Arg94His)) Homo sapiens

Symbol: CV39534
Name: NM_014762.4(DHCR24):c.281G>A (p.Arg94His)
Condition: Desmosterolosis [RCV000023540]
Clinical Significance: pathogenic
Last Evaluated: 04/30/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: DHCR24  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only
HGVS Name(s): NG_008839.1:g.8525G>A
NC_000001.11:g.54883724C>T
NC_000001.10:g.55349397C>T
NP_055577.1:p.Arg94His
NM_014762.4:c.281G>A
NM_014762.3:c.281G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38154,883,724 - 54,883,724CLINVAR
GRCh37155,349,397 - 55,349,397CLINVAR
Cytogenetic Map11p32.3CLINVAR
Age Of Onset: antenatal|neonatal/infancy
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8568443
Created: 2014-05-13
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.