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Variant : CV917585 (NM_001139.3(ALOX12B):c.1275+30_1275+35del) Homo sapiens

Symbol: CV917585
Name: NM_001139.3(ALOX12B):c.1275+30_1275+35del
Condition: Leukoencephalopathy, brain calcifications, and cysts [RCV001194511]
Clinical Significance: pathogenic
Last Evaluated: 04/06/2020
Review Status: no assertion criteria provided
Related Genes: ALOX12B   SNORD118  
Variant Type: deletion (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NG_007099.1:g.15744_15749del
LRG_1264:g.15757_15762del
NG_007099.2:g.15757_15762del
LRG_1264t1:c.1275+30_1275+35del
NM_001139.3:c.1275+30_1275+35del
NC_000017.11:g.8076955_8076960del
NC_000017.10:g.7980273_7980278del
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,076,955 - 8,076,960CLINVAR
GRCh37177,980,273 - 7,980,278CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: LABRUNE SYNDROME



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 34888454
Created: 2020-07-07
Species: Homo sapiens
Last Modified: 2020-10-20
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.