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Variant : CV282902 (NM_014762.4(DHCR24):c.*1677T>C) Homo sapiens

Symbol: CV282902
Name: NM_014762.4(DHCR24):c.*1677T>C
Condition: Desmosterolosis [RCV000337038]
Clinical Significance: likely benign
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.41693T>C
NC_000001.11:g.54850556A>G
NC_000001.10:g.55316229A>G
NM_014762.4:c.*1677T>C
NM_014762.3:c.*1677T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38154,850,556 - 54,850,556CLINVAR
GRCh37155,316,229 - 55,316,229CLINVAR
Cytogenetic Map11p32.3CLINVAR
Age Of Onset: antenatal
Prevalence: <1 / 1 000 000



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11592274
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.