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Variant : CV801882 (NM_001414.4(EIF2B1):c.7G>T (p.Asp3Tyr)) Homo sapiens

Symbol: CV801882
Name: NM_001414.4(EIF2B1):c.7G>T (p.Asp3Tyr)
Condition: Leukoencephalopathy with vanishing white matter [RCV001110020]|Microcephaly [RCV001252877]
Clinical Significance: uncertain significance
Last Evaluated: 01/13/2018
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: EIF2B1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing|research
HGVS Name(s): NM_001414.4:c.7G>T
NG_015862.1:g.5226G>T
NC_000012.12:g.123633551C>A
NC_000012.11:g.124118098C>A
NM_001414.3:c.7G>T
NP_001405.1:p.Asp3Tyr
Position
Human AssemblyChrPosition (strand)Source
GRCh3812123,633,551 - 123,633,551CLINVAR
GRCh3712124,118,098 - 124,118,098CLINVAR
Cytogenetic Map1212q24.31CLINVAR
Trait Synonyms: Abnormally small cranium; Abnormally small head; Abnormally small skull; CACH syndrome; CACH/VWM syndrome; CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION; Childhood ataxia with diffuse central nervous system hypomyelination; Cree leukoencehalopathy; Decreased circumference of cranium; Decreased size of cranium; Decreased size of head; Decreased size of skull; LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, ADULT-ONSET; Myelinosis centralis diffusa; Reduced head circumference; small calvarium; small cranium; Small head; Small head circumference; Small skull



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 28911119
Created: 2020-06-09
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.