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Variant : CV347734 (NM_001139.3(ALOX12B):c.46_48del (p.Ser16del)) Homo sapiens

Symbol: CV347734
Name: NM_001139.3(ALOX12B):c.46_48del (p.Ser16del)
Condition: Congenital ichthyosiform erythroderma [RCV000315149]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: ALOX12B  
Variant Type: deletion (SO:0001822)
Source: CLINVAR
Molecular Consequence: inframe_deletion|inframe_variant
Evidence: clinical testing
HGVS Name(s): NP_001130.1:p.Ser16del
LRG_1264t1:c.46_48del
NM_001139.3:c.46_48del
LRG_1264:g.5320_5322del
NG_007099.1:g.5307_5309del
NG_007099.2:g.5320_5322del
NC_000017.11:g.8087396_8087398del
NC_000017.10:g.7990714_7990716del
NM_001139.2:c.46_48delTCG
LRG_1264p1:p.Ser16del
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,087,395 - 8,087,397CLINVAR
GRCh37177,990,713 - 7,990,715CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: Congenital ichthyosis



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11654144
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-10-06
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.