Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV584850 (NM_014762.4(DHCR24):c.355A>C (p.Met119Leu)) Homo sapiens

Symbol: CV584850
Name: NM_014762.4(DHCR24):c.355A>C (p.Met119Leu)
Condition: not provided [RCV000728920]
Clinical Significance: uncertain significance
Last Evaluated: 09/07/2017
Review Status: criteria provided, single submitter
Related Genes: DHCR24  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_014762.4:c.355A>C
NG_008839.1:g.8599A>C
NC_000001.11:g.54883650T>G
NC_000001.10:g.55349323T>G
NP_055577.1:p.Met119Leu
Position
Human AssemblyChrPosition (strand)Source
GRCh38154,883,650 - 54,883,650CLINVAR
GRCh37155,349,323 - 55,349,323CLINVAR
Cytogenetic Map11p32.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13833615
Created: 2019-01-08
Species: Homo sapiens
Last Modified: 2019-07-16
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.