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Variant : CV578563 (NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln)) Homo sapiens

Symbol: CV578563
Name: NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln)
Condition: Deficiency of alpha-mannosidase [RCV000714791]
Clinical Significance: uncertain significance
Last Evaluated: 08/07/2018
Review Status: criteria provided, single submitter
Related Genes: MAN2B1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001173498.1:c.2246G>A
NM_000528.4:c.2249G>A
NM_000528.3:c.2249G>A
NP_001166969.1:p.Arg749Gln
NC_000019.10:g.12649931C>T
NC_000019.9:g.12760745C>T
NG_008318.1:g.21847G>A
NP_000519.2:p.Arg750Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh381912,649,931 - 12,649,931CLINVAR
GRCh371912,760,745 - 12,760,745CLINVAR
Cytogenetic Map1919p13.13CLINVAR
Trait Synonyms: Alpha-Mannosidosis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13827620
Created: 2018-12-06
Species: Homo sapiens
Last Modified: 2019-11-05
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.