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Variant : CV917584 (NM_001139.3(ALOX12B):c.1275+78G>A) Homo sapiens

Symbol: CV917584
Name: NM_001139.3(ALOX12B):c.1275+78G>A
Condition: Leukoencephalopathy, brain calcifications, and cysts [RCV001194509]
Clinical Significance: pathogenic
Last Evaluated: 04/06/2020
Review Status: no assertion criteria provided
Related Genes: ALOX12B   SNORD118  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): LRG_1264t1:c.1275+78G>A
NM_001139.3:c.1275+78G>A
LRG_1264:g.15805G>A
NG_007099.1:g.15792G>A
NG_007099.2:g.15805G>A
NC_000017.11:g.8076912C>T
NC_000017.10:g.7980230C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,076,912 - 8,076,912CLINVAR
GRCh37177,980,230 - 7,980,230CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: LABRUNE SYNDROME



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 34888452
Created: 2020-07-07
Species: Homo sapiens
Last Modified: 2020-10-15
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.