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Variant : CV204505 (NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys)) Homo sapiens

Symbol: CV204505
Name: NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys)
Condition: Deficiency of alpha-mannosidase [RCV000206895]
Clinical Significance: uncertain significance
Last Evaluated: 06/07/2012
Review Status: no assertion criteria provided
Related Genes: MAN2B1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): NG_008318.1:g.13528G>A
NC_000019.10:g.12658250C>T
NC_000019.9:g.12769064C>T
NP_000519.2:p.Glu402Lys
O00754:p.Glu402Lys
NM_001173498.1:c.1201G>A
NM_000528.4:c.1204G>A
NM_000528.3:c.1204G>A
NP_001166969.1:p.Glu401Lys
Position
Human AssemblyChrPosition (strand)Source
GRCh381912,658,250 - 12,658,250CLINVAR
GRCh371912,769,064 - 12,769,064CLINVAR
Cytogenetic Map1919p13.13CLINVAR
Trait Synonyms: alpha-Mannosidosis
Age Of Onset: childhood|neonatal
Prevalence: 1-9 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 10768735
Created: 2016-02-09
Species: Homo sapiens
Last Modified: 2019-11-12
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.