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Variant : CV282619 (NM_014762.4(DHCR24):c.615C>T (p.Ser205=)) Homo sapiens

Symbol: CV282619
Name: NM_014762.4(DHCR24):c.615C>T (p.Ser205=)
Condition: Desmosterolosis [RCV000347149]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: DHCR24  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NG_008839.1:g.20638C>T
NC_000001.11:g.54871611G>A
NC_000001.10:g.55337284G>A
NP_055577.1:p.Ser205=
NM_014762.4:c.615C>T
NM_014762.3:c.615C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38154,871,611 - 54,871,611CLINVAR
GRCh37155,337,284 - 55,337,284CLINVAR
Cytogenetic Map11p32.3CLINVAR
Age Of Onset: antenatal
Prevalence: <1 / 1 000 000



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11580875
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.