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Variant : CV917619 (NM_001139.3(ALOX12B):c.1275+77_1275+105dup) Homo sapiens

Symbol: CV917619
Name: NM_001139.3(ALOX12B):c.1275+77_1275+105dup
Condition: Leukoencephalopathy, brain calcifications, and cysts [RCV001194510]
Clinical Significance: pathogenic
Last Evaluated: 04/06/2020
Review Status: no assertion criteria provided
Related Genes: ALOX12B   SNORD118  
Variant Type: duplication (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_001139.3:c.1275+77_1275+105dup
LRG_1264:g.15804_15832dup
NG_007099.1:g.15791_15819dup
NG_007099.2:g.15804_15832dup
NC_000017.11:g.8076886_8076914dup
NC_000017.11:g.8076885_8076913dup
NC_000017.10:g.7980204_7980232dup
LRG_1264t1:c.1275+77_1275+105dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,076,884 - 8,076,885CLINVAR
GRCh37177,980,202 - 7,980,203CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: LABRUNE SYNDROME



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 34888843
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.