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Variant : CV358566 (NM_000528.4(MAN2B1):c.2922del (p.Gly975fs)) Homo sapiens

Symbol: CV358566
Name: NM_000528.4(MAN2B1):c.2922del (p.Gly975fs)
Condition: Deficiency of alpha-mannosidase [RCV000412417]
Clinical Significance: likely pathogenic
Last Evaluated: 05/27/2016
Review Status: criteria provided, single submitter
Related Genes: MAN2B1  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NP_001166969.1:p.Gly974fs
NP_000519.2:p.Gly975fs
NM_001173498.1:c.2919del
NM_000528.4:c.2922del
NG_008318.1:g.24544del
NC_000019.10:g.12647234del
NC_000019.9:g.12758048del
NM_000528.3:c.2922delA
Position
Human AssemblyChrPosition (strand)Source
GRCh381912,647,234 - 12,647,234CLINVAR
GRCh371912,758,048 - 12,758,048CLINVAR
Cytogenetic Map1919p13.13CLINVAR
Trait Synonyms: Alpha-Mannosidosis
Age Of Onset: childhood
Prevalence: 1-9 / 1 000 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12740594
Created: 2017-02-07
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.