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Variant : CV589815 (Single allele) Homo sapiens

Symbol: CV589815
Name: Single allele
Condition: Branched-chain keto acid dehydrogenase kinase deficiency [RCV000735205]
Clinical Significance: uncertain significance
Last Evaluated: 03/16/2018
Review Status: criteria provided, single submitter
Related Genes: ARMC5   BCKDK   BCL7C   C16orf58   CCDC189   COX6A2   CTF1   FBRS   FBXL19   FUS   HSD3B7   ITGAD   ITGAM   ITGAX   KAT8   ORAI3   PHKG2   PRR14   PRSS36   PRSS53   PRSS8   PYCARD   PYDC1   RNF40   SETD1A   SLC5A2   SRCAP   STX1B   STX4   TGFB1I1   TRIM72   VKORC1   ZNF629   ZNF646   ZNF668   ZNF688   ZNF689   ZNF764   ZNF785   ZNF843  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371630,554,158 - 31,536,880CLINVAR
Cytogenetic Map1616p11.2CLINVAR
Trait Synonyms: BCKDK DEFICIENCY



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13838492
Created: 2019-01-08
Species: Homo sapiens
Last Modified: 2019-12-03
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.